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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P2RY8_chrX_1457581_1542185 | 1508704 | TTCTATCT others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG01099.hp1 others(16): Show |
a0001a0005a0007others(1): Show | a0001c0001a0005c0006a0007c0009others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0034others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0040a0001c0001t0001g0045others(16): Show | 19 | 114 | 0.1667 | -8 | c.-25 others(27): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1508853 | TCATCCAT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(34): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0005a0001c0001t0001g0016a0001c0001t0001g0023others(34): Show | 37 | 114 | 0.3246 | -8 | c.-25 others(27): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1509083 | CTATCTAT others(1): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0019 | 1 | 114 | 0.0088 | -8 | c.-25 others(27): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1509099 | GTATCTAT others(1): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp1 HG01346.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(4): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0043others(15): Show | 18 | 114 | 0.1579 | -8 | c.-25 others(27): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1509161 | TTCTATCT others(1): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0012 | 1 | 114 | 0.0088 | -8 | c.-25 others(27): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1509374 | TTCTATCT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01175.hp1 HG03579.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0016a0001c0001t0029others(1): Show | a0001c0001t0001g0112a0001c0001t0016g0102a0001c0001t0029g0054others(1): Show | 4 | 114 | 0.0351 | -8 | c.-25 others(27): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1509668 | TCATCCAT others(1): Show |
T | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 114 | 0.0088 | -8 | c.-25 others(27): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1509751 | GTCTATCT others(1): Show |
G | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 114 | 0.0088 | -8 | c.-25 others(27): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1509796 | CCTATCTA others(1): Show |
C | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 114 | 0.0088 | -8 | c.-25 others(27): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1514703 | CCTTCCCT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 NA18966.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0023a0001c0001t0001g0063a0001c0001t0025g0110 | 3 | 114 | 0.0263 | -8 | c.-25 others(27): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1521029 | CTTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG03688.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0096 | 1 | 114 | 0.0088 | -8 | c.-25 others(27): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1524557 | GCATCCAT others(1): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 114 | 0.0088 | -8 | c.-25 others(27): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1524741 | GCATCCAT others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0112a0001c0001t0005g0011 | 2 | 114 | 0.0175 | -8 | c.-25 others(27): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1524805 | TCATCCAT others(1): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01074.hp1 HG01081.hp1 others(4): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0007 | a0001c0001t0001a0001c0001t0008a0002c0002t0004others(2): Show | a0001c0001t0001g0022a0001c0001t0008g0020a0001c0001t0008g0099others(4): Show | 7 | 114 | 0.0614 | -8 | c.-25 others(27): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1527706 | TATCCATC others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02622.hp2 HG02723.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0006a0001c0003t0003a0001c0003t0005others(3): Show | a0001c0001t0006g0029a0001c0003t0003g0030a0001c0003t0005g0031others(3): Show | 6 | 114 | 0.0526 | -8 | c.-25 others(25): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1528290 | GCAACATG others(1): Show |
G | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 114 | 0.0088 | -8 | c.-25 others(25): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1530157 | GATCTATC others(1): Show |
G | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0032 | 1 | 114 | 0.0088 | -8 | c.-25 others(25): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1530269 | TTATCTAT others(1): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG04115.hp1 |
a0001a0005 | a0001c0003a0005c0006 | a0001c0003t0012a0005c0006t0001 | a0001c0003t0012g0001a0005c0006t0001g0036 | 2 | 114 | 0.0175 | -8 | c.-25 others(25): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 189957441 | TTGTGTGT others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(52): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0014a0001c0001t0025others(5): Show | a0001c0001t0002g0026a0001c0001t0002g0039a0001c0001t0002g0082others(52): Show | 55 | 304 | 0.1809 | -8 | c.*46 others(17): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 15/15 | 463 | chr3 | TogoVar | |||||
P3H2_chr3_189951728_190125897 | 189959860 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02647.hp2 HG02897.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0001g0134a0001c0001t0001g0140a0001c0001t0001g0158others(7): Show | 10 | 304 | 0.0329 | -8 | c.203 others(27): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 14/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 189966123 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(27): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0139a0001c0001t0001g0154a0001c0001t0001g0158others(27): Show | 30 | 304 | 0.0987 | -8 | c.189 others(27): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190019785 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02647.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0017 | a0001c0001t0005a0001c0001t0011a0001c0001t0014others(2): Show | a0001c0001t0005g0024a0001c0001t0011g0077a0001c0001t0014g0027others(3): Show | 6 | 304 | 0.0197 | -8 | c.481 others(27): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190033276 | CCGTGACC others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0026 | a0001c0001t0005g0033a0001c0001t0005g0083a0001c0001t0026g0087 | 3 | 304 | 0.0099 | -8 | c.481 others(27): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190041020 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG02896.hp2 NA18993.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0002 | a0001c0001t0002g0292a0001c0001t0003g0221a0001c0002t0002g0210 | 3 | 304 | 0.0099 | -8 | c.481 others(27): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190041031 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG01069.hp2 HG01071.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(5): Show | a0001c0001t0001g0015a0001c0001t0005g0045a0001c0001t0005g0047others(10): Show | 13 | 304 | 0.0428 | -8 | c.481 others(27): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190041076 | ACACACTC others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02897.hp2 HG02976.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0017 | a0001c0001t0005a0001c0001t0007a0001c0003t0001others(1): Show | a0001c0001t0005g0004a0001c0001t0007g0005a0001c0003t0001g0072others(1): Show | 4 | 304 | 0.0132 | -8 | c.481 others(27): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190079341 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG01884.hp1 HG01891.hp1 others(4): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0177a0001c0001t0004g0194a0001c0001t0005g0033others(4): Show | 7 | 304 | 0.0230 | -8 | c.480 others(27): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190095303 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01358.hp2 HG01515.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0012others(6): Show | 9 | 304 | 0.0296 | -8 | c.480 others(27): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
P3H2_chr3_189951728_190125897 | 190116935 | AGATGTAG others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG01934.hp2 HG02109.hp1 others(13): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0005a0001c0001t0011a0001c0001t0017others(6): Show | a0001c0001t0005g0075a0001c0001t0005g0079a0001c0001t0005g0094others(13): Show | 16 | 304 | 0.0526 | -8 | c.480 others(25): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
P3H3_chr12_6823407_6844847 | 6825085 | GACCTCTC others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG02083.hp2 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0024others(6): Show | a0001c0001t0001a0001c0004t0005a0001c0024t0001others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0048a0001c0001t0001g0056others(13): Show | 29 | 452 | 0.0642 | -8 | c.-33 others(19): Show |
P3H3 | ENSG00000110811.20 | transcript | ENST00000290510.10 | protein_coding | 3321 | chr12 | TogoVar | ||||||
P3H3_chr12_6823407_6844847 | 6827854 | GGCGGGGG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02109.hp2 others(23): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(8): Show | a0001c0001t0001g0144a0001c0001t0001g0148a0001c0001t0005g0105others(16): Show | 26 | 452 | 0.0575 | -8 | c.-58 others(17): Show |
P3H3 | ENSG00000110811.20 | transcript | ENST00000290510.10 | protein_coding | 552 | chr12 | TogoVar | ||||||
P3R3URF_chr1_46170486_46181488 | 46177351 | ATATCTAT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01099.hp1 HG01261.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0015others(4): Show | 43 | 422 | 0.1019 | -8 | c.-88 others(17): Show |
P3R3URF | ENSG00000250719.2 | transcript | ENST00000506599.2 | protein_coding | 864 | chr1 | TogoVar | ||||||
P4HA1_chr10_73002217_73101866 | 73005678 | TAAAGTAT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02965.hp1 HG03453.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0089a0001c0001t0005g0091a0001c0001t0005g0227 | 3 | 234 | 0.0128 | -8 | c.*25 others(19): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1538 | chr10 | TogoVar | ||||||
P4HA1_chr10_73002217_73101866 | 73037525 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01123.hp1 HG01258.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0081a0001c0001t0001g0151a0001c0001t0001g0162others(10): Show | 13 | 234 | 0.0556 | -8 | c.114 others(27): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | ||||||
P4HA1_chr10_73002217_73101866 | 73047549 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01074.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0004a0001c0002t0013 | a0001c0001t0005g0084a0001c0001t0005g0085a0001c0001t0005g0086others(30): Show | 33 | 234 | 0.1410 | -8 | c.901 others(23): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 7/14 | chr10 | TogoVar | ||||||
P4HA1_chr10_73002217_73101866 | 73070142 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0003others(69): Show | 72 | 234 | 0.3077 | -8 | c.326 others(25): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 4/14 | chr10 | TogoVar | ||||||
P4HA1_chr10_73002217_73101866 | 73086933 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0010 | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0003others(53): Show | 56 | 234 | 0.2393 | -8 | c.-33 others(25): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
P4HA1_chr10_73002217_73101866 | 73091171 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0003others(66): Show | 69 | 234 | 0.2949 | -8 | c.-33 others(25): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
PA2G4_chr12_56099559_56118910 | 56116166 | AAAAGAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(112): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(21): Show | 115 | 352 | 0.3267 | -8 | c.*32 others(19): Show |
PA2G4 | ENSG00000170515.14 | transcript | ENST00000303305.11 | protein_coding | 2257 | chr12 | TogoVar | ||||||
PAAF1_chr11_73871999_73936114 | 73886672 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00597.hp1 others(52): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0010others(3): Show | a0001c0001t0001g0212a0002c0002t0002g0003a0002c0002t0002g0004others(47): Show | 55 | 370 | 0.1487 | -8 | c.89- others(21): Show |
PAAF1 | ENSG00000175575.13 | transcript | ENST00000310571.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PABIR2_chrX_134764566_134802205 | 134787099 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG02896.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0056a0001c0001t0001g0057others(2): Show | 5 | 217 | 0.0230 | -8 | c.497 others(23): Show |
PABIR2 | ENSG00000156504.17 | transcript | ENST00000343004.10 | protein_coding | 7/9 | chrX | TogoVar | ||||||
PABIR3_chrX_134802237_134859832 | 134828010 | GCTCTCTC others(1): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 199 | 0.0050 | -8 | c.190 others(25): Show |
PABIR3 | ENSG00000156500.16 | transcript | ENST00000645433.2 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PABIR3_chrX_134802237_134859832 | 134832394 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG03130.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017a0001c0001t0002g0018a0001c0001t0002g0019 | 3 | 199 | 0.0151 | -8 | c.246 others(25): Show |
PABIR3 | ENSG00000156500.16 | transcript | ENST00000645433.2 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PABIR3_chrX_134802237_134859832 | 134838659 | TCCCCCCT others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02257.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0010a0001c0001t0002g0013a0001c0001t0002g0017others(28): Show | 31 | 199 | 0.1558 | -8 | c.247 others(25): Show |
PABIR3 | ENSG00000156500.16 | transcript | ENST00000645433.2 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PABPC1L2A_chrX_73072276_73084512 | 73080188 | TGCTGCGG others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(141): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(14): Show | 144 | 274 | 0.5256 | -8 | c.-81 others(17): Show |
PABPC1L2A | ENSG00000186288.5 | transcript | ENST00000373519.1 | protein_coding | 677 | chrX | TogoVar | ||||||
PABPC1L2A_chrX_73072276_73084512 | 73080266 | GGGGCTGC others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 274 | 0.0037 | -8 | c.-88 others(17): Show |
PABPC1L2A | ENSG00000186288.5 | transcript | ENST00000373519.1 | protein_coding | 755 | chrX | TogoVar | ||||||
PABPC1L2B_chrX_72997939_73011106 | 73002741 | CGCAGCCC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01993.hp1 HG02071.hp1 HG02074.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0000a0001c0003t0001g0000 | 7 | 294 | 0.0238 | -8 | c.-90 others(17): Show |
PABPC1L2B | ENSG00000184388.6 | transcript | ENST00000373521.4 | protein_coding | 197 | chrX | TogoVar | ||||||
PABPC1L2B_chrX_72997939_73011106 | 73002749 | GGCAGCCC others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(114): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(8): Show | 117 | 294 | 0.3980 | -8 | c.-89 others(17): Show |
PABPC1L2B | ENSG00000184388.6 | transcript | ENST00000373521.4 | protein_coding | 189 | chrX | TogoVar | ||||||
PABPC1L2B_chrX_72997939_73011106 | 73007780 | CATATATA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(2): Show | 23 | 294 | 0.0782 | -8 | c.*35 others(19): Show |
PABPC1L2B | ENSG00000184388.6 | transcript | ENST00000373521.4 | protein_coding | 1675 | chrX | TogoVar | ||||||
PABPC1L_chr20_44905060_44944316 | 44911135 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01099.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0014a0001c0001t0001g0194a0001c0001t0001g0199others(21): Show | 26 | 396 | 0.0657 | -8 | c.193 others(23): Show |
PABPC1L | ENSG00000101104.13 | transcript | ENST00000217073.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |