view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0089 a0001c0001t0009g0082 |
2 | 130 | 0.0154 | 27 | c.583 others(42): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALS2_chr7_24568452_24699193 | 24638322 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA19075.hp1 NA19078.hp1 NA19083.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0005 a0001c0002t0016g0295 a0001c0002t0016g0297 others(1): Show |
4 | 286 | 0.0140 | 27 | c.118 others(44): Show |
PALS2 | ENSG00000105926.16 | transcript | ENST00000222644.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102766926 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02896.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 a0001c0002t0002g0031 |
2 | 27 | 0.0741 | 27 | c.-37 others(48): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAN3_chr13_28133545_28300335 | 28257701 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03516.hp1 NA19043.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0015a0001c0001t0029a0003c0006t0015 | a0001c0001t0015g0250 a0001c0001t0029g0249 a0003c0006t0015g0251 |
3 | 250 | 0.0120 | 27 | c.124 others(46): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87713312 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0002 | 1 | 99 | 0.0101 | 27 | c.381 others(40): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69322757 | A | AGAAGAGG others(20): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 a0001c0001t0001g0097 |
2 | 230 | 0.0087 | 27 | c.-27 others(48): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69322811 | G | GGAAGAAG others(20): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 96 | 0.0104 | 27 | c.-27 others(48): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69322832 | A | AGAAGAAG others(20): Show |
intron_variant | MODIFIER | NA18983.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0107 |
2 | 222 | 0.0090 | 27 | c.-27 others(48): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69378264 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0253 | 1 | 5 | 0.2000 | 27 | c.52- others(42): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205057377 | C | CATATACA others(20): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0045 | 1 | 54 | 0.0185 | 27 | c.504 others(44): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205248380 | T | TTGGTGGT others(20): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0025 | 1 | 40 | 0.0250 | 27 | c.218 others(46): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205331782 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0035 | 1 | 5 | 0.2000 | 27 | c.263 others(48): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205380347 | A | AATATATA others(20): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01109.hp1 HG01884.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0008a0002c0016others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0008t0004others(6): Show | a0001c0001t0001g0053 a0001c0001t0002g0033 a0002c0008t0004g0028 others(6): Show |
9 | 32 | 0.2813 | 27 | c.263 others(48): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205380381 | A | AATATATA others(20): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0006 | a0006c0007 | a0006c0007t0005 | a0006c0007t0005g0040 | 1 | 54 | 0.0185 | 27 | c.263 others(48): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205380408 | A | AATATATA others(20): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02965.hp1 HG03195.hp1 |
a0001a0008a0011 | a0001c0001a0008c0014a0011c0027 | a0001c0001t0004a0008c0014t0001a0011c0027t0015 | a0001c0001t0004g0017 a0008c0014t0001g0011 a0011c0027t0015g0003 |
3 | 53 | 0.0566 | 27 | c.263 others(48): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205381175 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0016 | 1 | 54 | 0.0185 | 27 | c.263 others(48): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34145221 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 32 | 0.0313 | 27 | c.342 others(48): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 22/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34227854 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0090 | 1 | 48 | 0.0208 | 27 | c.341 others(48): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 22/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34605524 | C | CTATATAT others(20): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG01358.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(2): Show | a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0081 others(6): Show |
9 | 79 | 0.1139 | 27 | c.223 others(46): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34605524 | C | CTATATAT others(20): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 71 | 0.0141 | 27 | c.223 others(46): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARN_chr16_14430701_14635260 | 14501435 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01928.hp1 HG03710.hp1 NA19005.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0041 a0001c0001t0002g0111 a0001c0001t0004g0062 others(1): Show |
4 | 10 | 0.4000 | 27 | c.148 others(48): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 21/23 | chr16 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143981971 | T | TGATGCTG others(20): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0210 | 1 | 378 | 0.0026 | 27 | c.255 others(44): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
PARP14_chr3_122675839_122735840 | 122677565 | A | AAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0329 | 1 | 213 | 0.0047 | 27 | c.-33 others(38): Show |
PARP14 | ENSG00000173193.15 | transcript | ENST00000474629.7 | protein_coding | 3273 | chr3 | TogoVar | |||||||
PARP15_chr3_122572650_122644047 | 122601036 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02647.hp1 NA18966.hp2 others(2): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0004a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0016a0004c0004t0002others(2): Show | a0001c0001t0001g0071 a0001c0001t0016g0141 a0004c0004t0002g0150 others(2): Show |
5 | 213 | 0.0235 | 27 | c.187 others(44): Show |
PARP15 | ENSG00000173200.13 | transcript | ENST00000464300.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44066780 | T | TCTTCTCC others(20): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01069.hp2 others(30): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0143 a0001c0001t0002g0134 a0001c0001t0002g0137 others(30): Show |
33 | 93 | 0.3548 | 27 | c.113 others(46): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44066780 | T | TCTTCTCC others(20): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02886.hp2 others(10): Show |
a0001a0005a0009 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(8): Show | a0001c0001t0001g0009 a0001c0001t0004g0102 a0001c0001t0004g0117 others(10): Show |
13 | 73 | 0.1781 | 27 | c.113 others(46): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44066795 | C | CCTCCTCC others(20): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0005 | a0001c0005t0045 | a0001c0005t0045g0084 | 1 | 325 | 0.0031 | 27 | c.113 others(46): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44066801 | C | CCTCCTCC others(20): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG01109.hp1 others(6): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0010a0001c0002t0005others(4): Show | a0001c0001t0003g0227 a0001c0001t0003g0233 a0001c0001t0010g0178 others(6): Show |
9 | 314 | 0.0287 | 27 | c.113 others(46): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61886819 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02922.hp2 HG02976.hp1 others(3): Show |
a0001a0005a0008others(2): Show | a0001c0021a0001c0092a0005c0042others(3): Show | a0001c0021t0002a0001c0092t0003a0005c0042t0004others(3): Show | a0001c0021t0002g0071 a0001c0092t0003g0158 a0005c0042t0004g0130 others(3): Show |
6 | 10 | 0.6000 | 27 | c.313 others(46): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 22/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62144769 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0039 | a0039c0108 | a0039c0108t0002 | a0039c0108t0002g0124 | 1 | 150 | 0.0067 | 27 | c.527 others(46): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | chr1 | TogoVar | |||||||
PATJ_chr1_61737480_62168915 | 62144771 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02523.hp2 HG03704.hp1 others(1): Show |
a0001a0004a0019 | a0001c0008a0004c0091a0019c0043others(1): Show | a0001c0008t0002a0004c0091t0002a0019c0043t0002others(1): Show | a0001c0008t0002g0135 a0004c0091t0002g0110 a0019c0043t0002g0040 others(1): Show |
4 | 124 | 0.0323 | 27 | c.527 others(46): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | chr1 | TogoVar | |||||||
PATL1_chr11_59631716_59674037 | 59652064 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 27 | 0.0370 | 27 | c.142 others(44): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 11/18 | chr11 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721644 | T | TGTATTAC others(20): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG02559.hp1 HG02572.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0016 a0001c0002t0001g0016 a0001c0002t0001g0043 others(1): Show |
5 | 396 | 0.0126 | 27 | c.*70 others(38): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3164 | chr20 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 36984435 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0263 | 1 | 44 | 0.0227 | 27 | c.605 others(46): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | |||||||
PAX6_chr11_31784026_31816322 | 31812879 | T | TGGCCGCG others(20): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 374 | 0.0027 | 27 | c.-21 others(38): Show |
PAX6 | ENSG00000007372.25 | transcript | ENST00000640368.2 | protein_coding | 1558 | chr11 | TogoVar | |||||||
PBLD_chr10_68277660_68337928 | 68319111 | G | GAAAGAAA others(20): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0321 | 1 | 256 | 0.0039 | 27 | c.-59 others(46): Show |
PBLD | ENSG00000108187.16 | transcript | ENST00000358769.7 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52542619 | C | CAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 4 | 0.2500 | 27 | c.*54 others(38): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 2747 | chr3 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52636757 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0173 | 1 | 109 | 0.0092 | 27 | c.108 others(46): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 11/31 | chr3 | TogoVar | |||||||
PBX3_chr9_125742373_125972377 | 125870105 | T | TATCTCAG others(20): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 a0001c0001t0001g0198 |
2 | 290 | 0.0069 | 27 | c.275 others(46): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45646053 | T | TCTCTCTC others(20): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0225 | 1 | 255 | 0.0039 | 27 | c.-27 others(46): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 1/17 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45909791 | C | CCCCCCCC others(20): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG01099.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0135 others(23): Show |
26 | 275 | 0.0945 | 27 | c.471 others(42): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45910104 | C | CCCACCCA others(20): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02965.hp1 HG03017.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0004t0002g0088 |
3 | 228 | 0.0132 | 27 | c.471 others(42): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100132270 | C | CCATTACC others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(133): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(133): Show |
136 | 150 | 0.9067 | 27 | c.300 others(46): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100422119 | T | TTTCTTTC others(20): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0051 | 1 | 166 | 0.0060 | 27 | c.174 others(46): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92111219 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 23 | 0.0435 | 27 | c.303 others(48): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92148173 | C | CTTCCTTC others(20): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 46 | 0.0217 | 27 | c.303 others(48): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92326622 | C | CTATATAT others(20): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 144 | 0.0069 | 27 | c.314 others(48): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92331279 | T | TTTCTTCT others(20): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0057 a0001c0001t0005g0041 a0001c0001t0006g0021 |
3 | 64 | 0.0469 | 27 | c.314 others(48): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5069694 | G | GCAGACTC others(20): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18971.hp1 NA18974.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0004 | a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 others(3): Show |
6 | 115 | 0.0522 | 27 | c.360 others(46): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5373126 | C | CCCTCCCT others(20): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 9 | 0.1111 | 27 | c.285 others(50): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar |