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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDZD11_chrX_70281595_70294927 | 70283715 | ACCTTAGT | A | downstream_gene_variant | MODIFIER | NA19076.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0031 | 1 | 310 | 0.0032 | -7 | c.*33 others(18): Show |
PDZD11 | ENSG00000120509.12 | transcript | ENST00000239666.9 | protein_coding | 2879 | chrX | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31697900 | ATCATTTT | A | intron_variant | MODIFIER | HG02622.hp2 HG02818.hp2 |
a0001a0006 | a0001c0010a0006c0016 | a0001c0010t0015a0006c0016t0001 | a0001c0010t0015g0199a0006c0016t0001g0061 | 2 | 216 | 0.0093 | -7 | c.-36 others(28): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31740524 | CAAAAAAA | C | intron_variant | MODIFIER | HG00673.hp1 HG01069.hp2 HG01074.hp2 others(35): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0022others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(24): Show | a0001c0001t0001g0081a0001c0001t0001g0083a0001c0001t0001g0086others(35): Show | 38 | 216 | 0.1759 | -7 | c.-36 others(28): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31821064 | TCTCCTTA | T | intron_variant | MODIFIER | HG02723.hp1 HG02886.hp2 |
a0002a0009 | a0002c0002a0009c0020 | a0002c0002t0002a0009c0020t0001 | a0002c0002t0002g0144a0009c0020t0001g0188 | 2 | 216 | 0.0093 | -7 | c.476 others(26): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31864839 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00735.hp2 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0002others(16): Show | a0001c0001t0001g0162a0001c0001t0003g0009a0001c0005t0002g0100others(17): Show | 20 | 216 | 0.0926 | -7 | c.476 others(26): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31865621 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00597.hp1 others(39): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0034others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0037a0001c0001t0001g0083a0001c0001t0001g0098others(39): Show | 42 | 216 | 0.1944 | -7 | c.476 others(26): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31956758 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG01099.hp2 others(8): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0010a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0018a0001c0010t0015others(6): Show | a0001c0001t0001g0098a0001c0001t0001g0194a0001c0001t0018g0128others(8): Show | 11 | 216 | 0.0509 | -7 | c.477 others(26): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31969509 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp2 HG01243.hp1 others(8): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0018others(7): Show | a0001c0001t0001g0194a0001c0001t0005g0010a0001c0001t0018g0128others(8): Show | 11 | 216 | 0.0509 | -7 | c.477 others(26): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31975800 | TTTATTTA | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(80): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0001c0007others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0052others(80): Show | 83 | 216 | 0.3843 | -7 | c.477 others(24): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 32003170 | CACACCAT | C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00597.hp1 others(61): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0037a0001c0001t0001g0052a0001c0001t0001g0059others(61): Show | 64 | 216 | 0.2963 | -7 | c.125 others(26): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 32084948 | CTTTTTTT | C | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02622.hp2 others(2): Show |
a0006a0029 | a0006c0015a0006c0016a0029c0055 | a0006c0015t0040a0006c0015t0046a0006c0016t0001others(2): Show | a0006c0015t0040g0213a0006c0015t0046g0005a0006c0016t0001g0061others(2): Show | 5 | 216 | 0.0232 | -7 | c.368 others(26): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD8_chr10_117272274_117380440 | 117278643 | TGTGTTTG | T | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG03139.hp2 |
a0001a0005 | a0001c0009a0005c0007 | a0001c0009t0045a0005c0007t0066a0005c0007t0067 | a0001c0009t0045g0012a0005c0007t0066g0321a0005c0007t0067g0320 | 3 | 322 | 0.0093 | -7 | c.*46 others(18): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 5/5 | 4618 | chr10 | TogoVar | |||||
PDZK1_chr1_145665985_145712368 | 145697763 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(101): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0006 | a0001c0001t0001a0001c0001t0003a0003c0003t0001others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(94): Show | 104 | 322 | 0.3230 | -7 | c.-3+ others(22): Show |
PDZK1 | ENSG00000174827.14 | transcript | ENST00000417171.6 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
PDZRN3_chr3_73377431_73629941 | 73449968 | GCACACGC | G | intron_variant | MODIFIER | NA18948.hp2 NA18978.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0001 | a0001c0002t0002g0067a0002c0003t0001g0087 | 2 | 216 | 0.0093 | -7 | c.919 others(26): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
PDZRN3_chr3_73377431_73629941 | 73551688 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0002a0001c0014t0001 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0002g0036others(3): Show | 6 | 216 | 0.0278 | -7 | c.918 others(26): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41238707 | TTAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(140): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0010others(38): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(47): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(140): Show | 143 | 206 | 0.6942 | -7 | c.843 others(26): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41322487 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp1 HG02148.hp1 others(7): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0002c0009others(5): Show | a0001c0001t0001a0002c0002t0002a0002c0009t0001others(5): Show | a0001c0001t0001g0042a0002c0002t0002g0164a0002c0002t0002g0170others(7): Show | 10 | 206 | 0.0485 | -7 | c.843 others(28): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41555052 | CAAAAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 NA18906.hp1 others(4): Show |
a0001a0004a0005others(2): Show | a0001c0034a0004c0040a0005c0008others(4): Show | a0001c0034t0003a0004c0040t0001a0005c0008t0001others(4): Show | a0001c0034t0003g0037a0004c0040t0001g0075a0005c0008t0001g0180others(4): Show | 7 | 206 | 0.0340 | -7 | c.130 others(24): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEA15_chr1_160200384_160220372 | 160201078 | CTAACCCA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(64): Show | 363 | 372 | 0.9758 | -7 | c.-44 others(18): Show |
PEA15 | ENSG00000162734.13 | transcript | ENST00000360472.9 | protein_coding | 4305 | chr1 | TogoVar | ||||||
PEAK1_chr15_77103158_77425104 | 77112697 | ACACACAC | A | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01167.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0210a0002c0002t0012g0211a0002c0002t0012g0278others(2): Show | 5 | 326 | 0.0153 | -7 | c.*14 others(18): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 10/10 | 1452 | chr15 | TogoVar | |||||
PEAK1_chr15_77103158_77425104 | 77162493 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00621.hp2 others(61): Show |
a0003a0011 | a0003c0003a0003c0008a0011c0019 | a0003c0003t0002a0003c0003t0006a0003c0003t0014others(9): Show | a0003c0003t0002g0113a0003c0003t0002g0114a0003c0003t0002g0117others(61): Show | 64 | 326 | 0.1963 | -7 | c.313 others(26): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 7/9 | chr15 | TogoVar | ||||||
PEAK1_chr15_77103158_77425104 | 77226053 | ATATATAT | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00621.hp2 others(34): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0003c0008others(1): Show | a0001c0001t0037a0001c0001t0053a0003c0003t0002others(10): Show | a0001c0001t0037g0262a0001c0001t0053g0259a0003c0003t0002g0114others(34): Show | 37 | 326 | 0.1135 | -7 | c.-11 others(28): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
PEAR1_chr1_156888718_156921429 | 156911069 | CTTTCTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG02615.hp2 HG02886.hp1 others(2): Show |
a0004 | a0004c0019a0004c0046 | a0004c0019t0001a0004c0046t0004 | a0004c0019t0001g0049a0004c0019t0001g0050a0004c0046t0004g0236 | 5 | 384 | 0.0130 | -7 | c.195 others(24): Show |
PEAR1 | ENSG00000187800.14 | transcript | ENST00000292357.8 | protein_coding | 15/22 | chr1 | TogoVar | ||||||
PEBP4_chr8_22708251_22932914 | 22798716 | CTTTTCTT | C | intron_variant | MODIFIER | HG02080.hp1 HG02080.hp2 HG02155.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0008 | a0001c0001t0002a0002c0002t0002a0004c0008t0006 | a0001c0001t0002g0170a0001c0001t0002g0193a0002c0002t0002g0197others(2): Show | 5 | 278 | 0.0180 | -7 | c.357 others(26): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | ||||||
PECR_chr2_216033388_216086809 | 216054371 | CTTTTTTT | C | intron_variant | MODIFIER | HG01975.hp2 HG02055.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155a0001c0001t0001g0212a0001c0001t0001g0213others(4): Show | 7 | 398 | 0.0176 | -7 | c.507 others(24): Show |
PECR | ENSG00000115425.14 | transcript | ENST00000265322.8 | protein_coding | 4/7 | chr2 | TogoVar | ||||||
PECR_chr2_216033388_216086809 | 216061311 | CAAAAAAA | C | intron_variant | MODIFIER | HG00597.hp2 HG01255.hp1 HG03688.hp1 others(3): Show |
a0002a0003 | a0002c0002a0003c0006 | a0002c0002t0002a0003c0006t0001 | a0002c0002t0002g0060a0002c0002t0002g0122a0002c0002t0002g0239others(3): Show | 6 | 398 | 0.0151 | -7 | c.425 others(24): Show |
PECR | ENSG00000115425.14 | transcript | ENST00000265322.8 | protein_coding | 3/7 | chr2 | TogoVar | ||||||
PEF1_chr1_31624866_31649876 | 31648130 | GAAAAAAA | G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02559.hp1 HG02572.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0016others(3): Show | 15 | 346 | 0.0434 | -7 | c.-32 others(18): Show |
PEF1 | ENSG00000162517.13 | transcript | ENST00000373703.5 | protein_coding | 3255 | chr1 | TogoVar | ||||||
PELI2_chr14_56113411_56306524 | 56197915 | AGACACAC | A | intron_variant | MODIFIER | HG01175.hp1 HG02886.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0005a0001c0007t0005 | a0001c0001t0003g0157a0001c0001t0005g0332a0001c0007t0005g0159 | 3 | 368 | 0.0082 | -7 | c.207 others(26): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
PELI2_chr14_56113411_56306524 | 56227618 | GTAGTCTC | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(125): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0021others(124): Show | 128 | 368 | 0.3478 | -7 | c.207 others(26): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PELP1_chr17_4664774_4709137 | 4668975 | TATATATA | T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG01258.hp2 others(6): Show |
a0002 | a0002c0003a0002c0022 | a0002c0003t0003a0002c0022t0003 | a0002c0003t0003g0231a0002c0003t0003g0232a0002c0003t0003g0233others(6): Show | 9 | 316 | 0.0285 | -7 | c.*24 others(18): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 798 | chr17 | TogoVar | ||||||
PELP1_chr17_4664774_4709137 | 4705421 | TAAAGTAA | T | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01943.hp1 HG02027.hp1 others(26): Show |
a0001a0011a0012 | a0001c0001a0001c0032a0011c0024others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0032t0002others(2): Show | a0001c0001t0001g0194a0001c0001t0002g0251a0001c0001t0002g0252others(26): Show | 29 | 316 | 0.0918 | -7 | c.-13 others(18): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 1285 | chr17 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33393229 | CCCGGGGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(71): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0012others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0012t0002others(3): Show | a0001c0001t0001g0105a0001c0001t0001g0112a0001c0001t0001g0270others(71): Show | 74 | 314 | 0.2357 | -7 | c.968 others(24): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 12/14 | chr19 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33393231 | CGGGGTCT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(76): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0022others(73): Show | 79 | 314 | 0.2516 | -7 | c.968 others(24): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 12/14 | chr19 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33399622 | TGGCTGAG | T | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00621.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0005a0001c0001t0001g0291a0001c0001t0001g0292others(4): Show | 8 | 314 | 0.0255 | -7 | c.967 others(24): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 12/14 | chr19 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33424994 | AAACAAAC | A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(61): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(1): Show | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0001g0078others(61): Show | 64 | 314 | 0.2038 | -7 | c.672 others(26): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33449756 | GCGGTGTC | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(187): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0044others(184): Show | 190 | 314 | 0.6051 | -7 | c.671 others(26): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33517560 | AAAAAAAC | A | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01074.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0013 | a0001c0001t0001a0002c0002t0002a0002c0013t0002 | a0001c0001t0001g0178a0001c0001t0001g0179a0001c0001t0001g0180others(8): Show | 11 | 314 | 0.0350 | -7 | c.17+ others(22): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 1/14 | chr19 | TogoVar | ||||||
PER1_chr17_8135472_8157404 | 8149207 | CAAAAACA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(116): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0011others(49): Show | 119 | 426 | 0.2793 | -7 | c.905 others(20): Show |
PER1 | ENSG00000179094.16 | transcript | ENST00000317276.9 | protein_coding | 7/22 | chr17 | TogoVar | ||||||
PER2_chr2_238239044_238293610 | 238245042 | TAAAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG02735.hp2 HG02970.hp1 others(8): Show |
a0001a0004a0019 | a0001c0001a0004c0008a0019c0015 | a0001c0001t0007a0001c0001t0027a0004c0008t0007others(1): Show | a0001c0001t0007g0038a0001c0001t0007g0039a0001c0001t0007g0152others(7): Show | 11 | 370 | 0.0297 | -7 | c.*13 others(18): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 23/23 | 1326 | chr2 | TogoVar | |||||
PER3_chr1_7779291_7850177 | 7815991 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00738.hp2 others(31): Show |
a0002a0004a0005 | a0002c0002a0004c0006a0005c0025 | a0002c0002t0001a0004c0006t0001a0005c0025t0014 | a0002c0002t0001g0009a0002c0002t0001g0188a0004c0006t0001g0003others(29): Show | 34 | 410 | 0.0829 | -7 | c.152 others(26): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PET117_chr20_18132863_18148169 | 18141040 | TTTTTTTA | T | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00609.hp1 others(39): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0024others(21): Show | 42 | 424 | 0.0991 | -7 | c.97- others(22): Show |
PET117 | ENSG00000232838.4 | transcript | ENST00000432901.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PEX11B_chr1_145906350_145923717 | 145913029 | AGTGAGCC | A | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00642.hp2 others(108): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0016others(10): Show | 111 | 368 | 0.3016 | -7 | c.375 others(22): Show |
PEX11B | ENSG00000131779.11 | transcript | ENST00000369306.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10503300 | AAAAAAAG | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(61): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(8): Show | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0040others(60): Show | 64 | 258 | 0.2481 | -7 | c.84+ others(22): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10511085 | GCAGAGCT | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00558.hp1 others(53): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(6): Show | a0001c0001t0001g0093a0001c0001t0001g0179a0001c0002t0001g0001others(52): Show | 56 | 258 | 0.2171 | -7 | c.84+ others(24): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577562 | ATTTTTTT | A | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG03098.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(1): Show | a0001c0001t0001g0077a0001c0001t0001g0094a0001c0001t0001g0126others(4): Show | 7 | 258 | 0.0271 | -7 | c.170 others(26): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10581746 | TTAATTTA | T | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(48): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(48): Show | 51 | 258 | 0.1977 | -7 | c.170 others(26): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX19_chr1_160271807_160290133 | 160273736 | TCTCCTGC | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(146): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0006 | a0001c0001t0002a0001c0001t0011a0001c0001t0019others(4): Show | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0015others(9): Show | 149 | 378 | 0.3942 | -7 | c.*58 others(18): Show |
PEX19 | ENSG00000162735.19 | transcript | ENST00000368072.10 | protein_coding | 3070 | chr1 | TogoVar | ||||||
PEX1_chr7_92482025_92533520 | 92530177 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01884.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105a0001c0001t0001g0108a0001c0001t0001g0111others(4): Show | 7 | 310 | 0.0226 | -7 | c.-17 others(18): Show |
PEX1 | ENSG00000127980.16 | transcript | ENST00000248633.9 | protein_coding | 1658 | chr7 | TogoVar | ||||||
PEX26_chr22_18072990_18110396 | 18101807 | TCTGGGGC | T | 3_prime_UTR_variant | MODIFIER | HG01099.hp1 HG02572.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0055a0001c0001t0106others(1): Show | a0001c0001t0038g0053a0001c0001t0038g0056a0001c0001t0055g0015others(2): Show | 5 | 398 | 0.0126 | -7 | c.*13 others(20): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 5/5 | 13735 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
PEX3_chr6_143445805_143495616 | 143455359 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00621.hp2 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0054a0001c0001t0001g0185others(37): Show | 72 | 412 | 0.1748 | -7 | c.74- others(22): Show |
PEX3 | ENSG00000034693.15 | transcript | ENST00000367591.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |