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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPA2_chr4_105364077_105479062 | 105425723 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02451.hp1 NA19043.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0039a0001c0001t0002g0218a0001c0001t0009g0264 | 3 | 366 | 0.0082 | -12 | c.529 others(29): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 6/11 | chr4 | TogoVar | ||||||
PPA2_chr4_105364077_105479062 | 105443591 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG02071.hp1 HG02486.hp1 others(15): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0005g0174a0001c0001t0005g0182a0001c0001t0005g0184others(15): Show | 18 | 366 | 0.0492 | -12 | c.441 others(29): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 5/11 | chr4 | TogoVar | ||||||
PPA2_chr4_105364077_105479062 | 105449216 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01257.hp1 HG02300.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0003g0175a0001c0001t0003g0176a0001c0001t0003g0330others(6): Show | 9 | 366 | 0.0246 | -12 | c.321 others(27): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 4/11 | chr4 | TogoVar | ||||||
PPAN_chr19_10101362_10117012 | 10115784 | GACAAGTT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 442 | 0.0023 | -12 | c.*46 others(23): Show |
PPAN | ENSG00000130810.20 | transcript | ENST00000253107.12 | protein_coding | 3773 | chr19 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46150870 | CCGAGGAC others(5): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG01109.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0008a0001c0001t0005g0007a0001c0001t0005g0009others(6): Show | 9 | 200 | 0.0450 | -12 | c.-21 others(29): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPARA_chr22_46145526_46248755 | 46154988 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0168 | 1 | 200 | 0.0050 | -12 | c.-12 others(31): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPARA_chr22_46145526_46248755 | 46185910 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0165 | 1 | 200 | 0.0050 | -12 | c.-43 others(29): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPARA_chr22_46145526_46248755 | 46185954 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0074 | a0001c0001t0007g0036a0001c0001t0074g0112 | 2 | 200 | 0.0100 | -12 | c.-43 others(29): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPARA_chr22_46145526_46248755 | 46205544 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0035 | a0001c0001t0006g0029a0001c0001t0035g0163 | 2 | 200 | 0.0100 | -12 | c.208 others(29): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPARA_chr22_46145526_46248755 | 46205550 | ATATATTT others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0162 | 1 | 200 | 0.0050 | -12 | c.208 others(29): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPARA_chr22_46145526_46248755 | 46205552 | ATATTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0003 | 1 | 200 | 0.0050 | -12 | c.208 others(29): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPARD_chr6_35337558_35433178 | 35345874 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | NA18971.hp1 NA18984.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087 | 3 | 238 | 0.0126 | -12 | c.-18 others(31): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPARD_chr6_35337558_35433178 | 35404953 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0047 | 1 | 238 | 0.0042 | -12 | c.-10 others(31): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPARD_chr6_35337558_35433178 | 35423054 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0067 | 1 | 238 | 0.0042 | -12 | c.425 others(27): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPARGC1A_chr4_23787021_23895047 | 23795291 | TTATATAT others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00544.hp1 others(101): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0009others(5): Show | a0001c0001t0006a0001c0001t0052a0001c0001t0066others(14): Show | a0001c0001t0006g0133a0001c0001t0052g0178a0001c0001t0066g0278others(101): Show | 104 | 342 | 0.3041 | -12 | c.*51 others(21): Show |
PPARGC1A | ENSG00000109819.9 | transcript | ENST00000264867.7 | protein_coding | 13/13 | 519 | chr4 | TogoVar | |||||
PPARGC1B_chr5_149725310_149860022 | 149729507 | TATACATA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG03579.hp1 |
a0001a0004a0015 | a0001c0001a0004c0005a0015c0027 | a0001c0001t0001a0004c0005t0001a0015c0027t0037 | a0001c0001t0001g0010a0004c0005t0001g0011a0015c0027t0037g0318 | 3 | 320 | 0.0094 | -12 | c.-83 others(21): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 802 | chr5 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149748286 | GAGATATA others(5): Show |
G | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 320 | 0.0031 | -12 | c.78+ others(29): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPARGC1B_chr5_149725310_149860022 | 149750453 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(36): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(12): Show | a0001c0001t0001g0045a0001c0001t0001g0228a0001c0001t0001g0285others(36): Show | 39 | 320 | 0.1219 | -12 | c.78+ others(29): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPARGC1B_chr5_149725310_149860022 | 149755046 | CATATACA others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0059 | 1 | 320 | 0.0031 | -12 | c.78+ others(29): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPARGC1B_chr5_149725310_149860022 | 149777922 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00609.hp2 others(60): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0018a0001c0001t0001g0147a0001c0001t0001g0149others(60): Show | 63 | 320 | 0.1969 | -12 | c.79- others(29): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPARGC1B_chr5_149725310_149860022 | 149778061 | TCTCACAC others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG01081.hp2 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0166a0001c0001t0002g0152a0001c0001t0003g0103others(31): Show | 34 | 320 | 0.1063 | -12 | c.79- others(29): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPARGC1B_chr5_149725310_149860022 | 149778100 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG02165.hp2 HG03669.hp1 NA18949.hp2 |
a0004 | a0004c0005 | a0004c0005t0013a0004c0005t0022a0004c0005t0049 | a0004c0005t0013g0241a0004c0005t0022g0234a0004c0005t0049g0243 | 3 | 320 | 0.0094 | -12 | c.79- others(29): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPARGC1B_chr5_149725310_149860022 | 149809115 | TTAGATAG others(5): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0005 | a0005c0011 | a0005c0011t0009 | a0005c0011t0009g0054a0005c0011t0009g0088 | 2 | 320 | 0.0063 | -12 | c.79- others(29): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPARGC1B_chr5_149725310_149860022 | 149809289 | CATAGATA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(4): Show | a0001c0001t0001g0285a0001c0001t0002g0173a0001c0001t0002g0274others(18): Show | 21 | 320 | 0.0656 | -12 | c.79- others(29): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPARGC1B_chr5_149725310_149860022 | 149809350 | CATAGATA others(5): Show |
C | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0300 | 1 | 320 | 0.0031 | -12 | c.79- others(29): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPARGC1B_chr5_149725310_149860022 | 149809477 | CATAGATA others(5): Show |
C | intron_variant | MODIFIER | HG01943.hp1 HG02735.hp2 HG02809.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0008a0003c0003others(1): Show | a0001c0001t0023a0001c0001t0045a0002c0008t0008others(2): Show | a0001c0001t0023g0229a0001c0001t0045g0198a0002c0008t0008g0319others(2): Show | 5 | 320 | 0.0156 | -12 | c.79- others(29): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPARG_chr3_12284070_12439344 | 12287789 | GCCGCCCC others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01978.hp1 HG02004.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(5): Show | 8 | 294 | 0.0272 | -12 | c.-14 others(23): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 1280 | chr3 | TogoVar | ||||||
PPARG_chr3_12284070_12439344 | 12287810 | GCCCCCGC others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG01099.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0054a0001c0001t0001g0056a0001c0001t0001g0057others(20): Show | 23 | 294 | 0.0782 | -12 | c.-14 others(23): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 1259 | chr3 | TogoVar | ||||||
PPARG_chr3_12284070_12439344 | 12362520 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01255.hp1 HG01515.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0060others(14): Show | 17 | 294 | 0.0578 | -12 | c.-8- others(29): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPARG_chr3_12284070_12439344 | 12390637 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0029 | 1 | 294 | 0.0034 | -12 | c.391 others(29): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPARG_chr3_12284070_12439344 | 12397378 | TTTATTAT others(5): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02559.hp2 HG03471.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0214a0001c0001t0001g0253a0001c0001t0002g0040others(3): Show | 6 | 294 | 0.0204 | -12 | c.529 others(29): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPAT_chr4_56388362_56440615 | 56402837 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0113 | 1 | 384 | 0.0026 | -12 | c.661 others(27): Show |
PPAT | ENSG00000128059.8 | transcript | ENST00000264220.6 | protein_coding | 5/10 | chr4 | TogoVar | ||||||
PPAT_chr4_56388362_56440615 | 56422482 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0093 | 1 | 384 | 0.0026 | -12 | c.128 others(31): Show |
PPAT | ENSG00000128059.8 | transcript | ENST00000264220.6 | protein_coding | 1/10 | chr4 | TogoVar | ||||||
PPAT_chr4_56388362_56440615 | 56437256 | GGTGTGTG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02615.hp1 HG03491.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0031a0001c0002t0003 | a0001c0001t0031g0227a0001c0002t0003g0103 | 2 | 384 | 0.0052 | -12 | c.-17 others(23): Show |
PPAT | ENSG00000128059.8 | transcript | ENST00000264220.6 | protein_coding | 1642 | chr4 | TogoVar | ||||||
PPAT_chr4_56388362_56440615 | 56438371 | TTATATAT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(7): Show | a0001c0001t0001g0200a0001c0001t0001g0201a0001c0001t0001g0202others(47): Show | 56 | 384 | 0.1458 | -12 | c.-29 others(23): Show |
PPAT | ENSG00000128059.8 | transcript | ENST00000264220.6 | protein_coding | 2757 | chr4 | TogoVar | ||||||
PPDPF_chr20_63515765_63527206 | 63516671 | GCAAGCTC others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02602.hp1 HG02738.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0001a0001c0001t0002g0001a0001c0002t0002g0001others(1): Show | 8 | 394 | 0.0203 | -12 | c.-42 others(23): Show |
PPDPF | ENSG00000125534.10 | transcript | ENST00000370179.8 | protein_coding | 4093 | chr20 | TogoVar | ||||||
PPEF1_chrX_18702645_18832917 | 18809091 | ATATCTAT others(5): Show |
A | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 224 | 0.0045 | -12 | c.139 others(31): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PPEF1_chrX_18702645_18832917 | 18821758 | CGAGAGAG others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(89): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(87): Show | 92 | 224 | 0.4107 | -12 | c.150 others(31): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PPEF2_chr4_75854867_75907452 | 75855816 | CTAATAAT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02922.hp2 |
a0001a0005 | a0001c0001a0005c0018 | a0001c0001t0005a0005c0018t0005 | a0001c0001t0005g0046a0005c0018t0005g0229 | 2 | 270 | 0.0074 | -12 | c.*48 others(23): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 4050 | chr4 | TogoVar | ||||||
PPEF2_chr4_75854867_75907452 | 75856846 | GTATATAT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG02622.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0001a0001c0001t0005a0002c0011t0001 | a0001c0001t0001g0155a0001c0001t0001g0159a0001c0001t0005g0046others(1): Show | 4 | 270 | 0.0148 | -12 | c.*38 others(23): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 3020 | chr4 | TogoVar | ||||||
PPEF2_chr4_75854867_75907452 | 75862292 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0015others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0019others(248): Show | 255 | 270 | 0.9444 | -12 | c.200 others(31): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 16/16 | chr4 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70267574 | AAGGAAGG others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02257.hp1 others(2): Show |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0003a0002c0002t0002 | a0001c0005t0003g0158a0001c0005t0003g0159a0001c0005t0003g0160others(2): Show | 5 | 282 | 0.0177 | -12 | c.-33 others(23): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 3115 | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70279722 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG02148.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0098 | 1 | 282 | 0.0036 | -12 | c.264 others(29): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPFIA1_chr11_70265690_70389396 | 70286919 | CACACATA others(5): Show |
C | intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 282 | 0.0036 | -12 | c.264 others(31): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPFIA1_chr11_70265690_70389396 | 70299443 | ATCAAGGG others(5): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0003 | 1 | 282 | 0.0036 | -12 | c.265 others(31): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPFIA1_chr11_70265690_70389396 | 70331778 | TCAAAAAC others(5): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03098.hp1 others(2): Show |
a0001a0003 | a0001c0003a0003c0007 | a0001c0003t0003a0003c0007t0003 | a0001c0003t0003g0046a0003c0007t0003g0164a0003c0007t0003g0165others(2): Show | 5 | 282 | 0.0177 | -12 | c.107 others(29): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPFIA1_chr11_70265690_70389396 | 70339477 | GTTTTGTT others(5): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0158a0001c0005t0003g0159a0001c0005t0003g0160others(4): Show | 7 | 282 | 0.0248 | -12 | c.170 others(29): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPFIA2_chr12_81252975_81764350 | 81294439 | TAGGAAGG others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG01168.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0001 | a0001c0001t0003g0006a0001c0001t0003g0015a0001c0001t0004g0027others(5): Show | 8 | 168 | 0.0476 | -12 | c.292 others(29): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 24/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81335744 | AAACAACA others(5): Show |
A | intron_variant | MODIFIER | HG02080.hp2 HG02129.hp1 NA18939.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006 | a0001c0001t0003g0020a0001c0001t0004g0034a0001c0001t0004g0128others(3): Show | 6 | 168 | 0.0357 | -12 | c.254 others(31): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 21/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81362005 | GTATCTAT others(5): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01243.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0028a0001c0001t0001g0068a0001c0001t0001g0095others(19): Show | 22 | 168 | 0.1310 | -12 | c.163 others(29): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 15/32 | chr12 | TogoVar |