| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PKHD1_chr6_51610299_52092613 | 51891712 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG01433.hp1 others(4): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0093a0003c0048others(3): Show | a0001c0001t0001a0001c0093t0001a0003c0048t0001others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0093t0001g0127others(4): Show | 7 | 134 | 0.0522 | -8 | c.699 others(27): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 43/66 | chr6 | TogoVar | ||||||
| PKHD1_chr6_51610299_52092613 | 52014694 | CTGGATAG others(1): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02015.hp2 HG03239.hp2 others(1): Show |
a0003a0004a0022 | a0003c0013a0003c0036a0004c0064others(1): Show | a0003c0013t0001a0003c0036t0001a0004c0064t0003others(1): Show | a0003c0013t0001g0052a0003c0036t0001g0042a0004c0064t0003g0053others(1): Show | 4 | 134 | 0.0299 | -8 | c.560 others(27): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 34/66 | chr6 | TogoVar | ||||||
| PKHD1_chr6_51610299_52092613 | 52014700 | AGATGGAT others(1): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01106.hp1 HG01106.hp2 others(16): Show |
a0001a0002a0005others(7): Show | a0001c0001a0001c0002a0001c0010others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(15): Show | a0001c0001t0001g0058a0001c0002t0001g0113a0001c0010t0001g0077others(16): Show | 19 | 134 | 0.1418 | -8 | c.560 others(27): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 34/66 | chr6 | TogoVar | ||||||
| PKHD1_chr6_51610299_52092613 | 52014789 | CATGGATG others(1): Show |
C | intron_variant | MODIFIER | HG04184.hp1 HG04228.hp2 |
a0001a0002 | a0001c0032a0002c0005 | a0001c0032t0001a0002c0005t0004 | a0001c0032t0001g0075a0002c0005t0004g0076 | 2 | 134 | 0.0149 | -8 | c.560 others(27): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 34/66 | chr6 | TogoVar | ||||||
| PKIA_chr8_78511340_78610267 | 78536859 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp2 HG01167.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0088a0001c0001t0003g0130a0001c0001t0006g0004others(7): Show | 11 | 186 | 0.0591 | -8 | c.-15 others(29): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PKIB_chr6_122605405_122731373 | 122652292 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00621.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0022a0001c0001t0001g0023others(31): Show | 35 | 312 | 0.1122 | -8 | c.-76 others(27): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PKIB_chr6_122605405_122731373 | 122652328 | GTGTGTGG others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00673.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0059a0001c0001t0001g0061a0001c0001t0001g0062others(39): Show | 42 | 312 | 0.1346 | -8 | c.-76 others(27): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
| PKIB_chr6_122605405_122731373 | 122677842 | TCTTCCTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG02004.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0051others(7): Show | 10 | 312 | 0.0321 | -8 | c.-9+ others(23): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PKIB_chr6_122605405_122731373 | 122677886 | CCTTCCTT others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00733.hp2 HG01099.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0069a0001c0001t0001g0072others(46): Show | 49 | 312 | 0.1571 | -8 | c.-9+ others(23): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PKIG_chr20_44577579_44624037 | 44593364 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0019a0001c0001t0001g0021others(18): Show | 25 | 300 | 0.0833 | -8 | c.-24 others(25): Show |
PKIG | ENSG00000168734.14 | transcript | ENST00000372886.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PKLR_chr1_155284293_155306438 | 155298953 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG01069.hp1 HG01071.hp1 others(24): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0003a0001c0002t0002g0017a0001c0002t0002g0019others(11): Show | 27 | 311 | 0.0868 | -8 | c.283 others(25): Show |
PKLR | ENSG00000143627.19 | transcript | ENST00000342741.6 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
| PKMYT1_chr16_2967808_2985446 | 2984434 | TTTTATTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG01884.hp2 others(25): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0082a0001c0001t0002g0004others(4): Show | 28 | 392 | 0.0714 | -8 | c.-44 others(19): Show |
PKMYT1 | ENSG00000127564.17 | transcript | ENST00000262300.13 | protein_coding | 3989 | chr16 | TogoVar | ||||||
| PKM_chr15_72194029_72236190 | 72227767 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG02055.hp1 HG02148.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0044a0001c0001t0001g0045others(5): Show | 10 | 370 | 0.0270 | -8 | c.-14 others(25): Show |
PKM | ENSG00000067225.21 | transcript | ENST00000335181.10 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
| PKM_chr15_72194029_72236190 | 72233447 | CAAATAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02818.hp1 HG02895.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192a0001c0001t0001g0194a0001c0001t0001g0203others(5): Show | 8 | 370 | 0.0216 | -8 | c.-23 others(19): Show |
PKM | ENSG00000067225.21 | transcript | ENST00000335181.10 | protein_coding | 2258 | chr15 | TogoVar | ||||||
| PKM_chr15_72194029_72236190 | 72233483 | TAAATAAA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00673.hp1 others(47): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0008 | a0001c0001t0001a0001c0003t0001a0004c0008t0001 | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0014others(44): Show | 50 | 370 | 0.1351 | -8 | c.-23 others(19): Show |
PKM | ENSG00000067225.21 | transcript | ENST00000335181.10 | protein_coding | 2294 | chr15 | TogoVar | ||||||
| PKN1_chr19_14428306_14476859 | 14462133 | GTGAAACC others(1): Show |
G | intron_variant | MODIFIER | HG02056.hp1 NA18965.hp1 NA19087.hp1 |
a0002a0004 | a0002c0001a0004c0008 | a0002c0001t0001a0004c0008t0001 | a0002c0001t0001g0059a0002c0001t0001g0236a0004c0008t0001g0308 | 3 | 376 | 0.0080 | -8 | c.142 others(27): Show |
PKN1 | ENSG00000123143.13 | transcript | ENST00000242783.11 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| PKN2_chr1_88679273_88841255 | 88820180 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01123.hp1 HG01257.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0002a0001c0004t0007 | a0001c0001t0001g0208a0001c0001t0001g0265a0001c0002t0002g0065others(8): Show | 11 | 330 | 0.0333 | -8 | c.228 others(27): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PKN2_chr1_88679273_88841255 | 88837391 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0005 | a0001c0005t0004a0001c0005t0012 | a0001c0005t0004g0012a0001c0005t0004g0028a0001c0005t0004g0029others(4): Show | 7 | 330 | 0.0212 | -8 | c.*39 others(19): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 1137 | chr1 | TogoVar | ||||||
| PKNOX1_chr21_42969562_43038931 | 42993651 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(167): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0018others(166): Show | 170 | 362 | 0.4696 | -8 | c.-56 others(27): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PKNOX1_chr21_42969562_43038931 | 43030260 | AGTGTGTG others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02258.hp1 HG02723.hp1 HG02809.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0027a0001c0001t0031others(4): Show | a0001c0001t0024g0026a0001c0001t0024g0092a0001c0001t0027g0155others(6): Show | 9 | 362 | 0.0249 | -8 | c.*18 others(17): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 11/11 | 185 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
| PKNOX1_chr21_42969562_43038931 | 43035875 | AAAATAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG03654.hp1 NA20129.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0032 | a0001c0001t0019g0286a0001c0001t0019g0287a0001c0001t0032g0291 | 3 | 362 | 0.0083 | -8 | c.*57 others(19): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1945 | chr21 | TogoVar | ||||||
| PKNOX2_chr11_125159751_125438389 | 125175207 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | NA18612.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0022a0001c0001t0006g0058 | 2 | 222 | 0.0090 | -8 | c.-20 others(29): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKNOX2_chr11_125159751_125438389 | 125175243 | GGAAGGAA others(1): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01071.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0130a0001c0001t0003g0104a0001c0001t0003g0105others(10): Show | 13 | 222 | 0.0586 | -8 | c.-20 others(29): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKNOX2_chr11_125159751_125438389 | 125189441 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG03471.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0163a0001c0001t0003g0087 | 2 | 222 | 0.0090 | -8 | c.-20 others(29): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKNOX2_chr11_125159751_125438389 | 125189447 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG02165.hp2 NA18906.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0015a0001c0001t0001g0076a0001c0001t0005g0177 | 3 | 222 | 0.0135 | -8 | c.-20 others(29): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKNOX2_chr11_125159751_125438389 | 125195883 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01109.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0076a0001c0001t0001g0135a0001c0001t0001g0199others(28): Show | 31 | 222 | 0.1396 | -8 | c.-20 others(29): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKNOX2_chr11_125159751_125438389 | 125315303 | GAAAAAAA others(1): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG02896.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0167a0001c0001t0001g0172a0001c0001t0001g0186others(4): Show | 7 | 222 | 0.0315 | -8 | c.-12 others(29): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKNOX2_chr11_125159751_125438389 | 125411462 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0121a0001c0001t0001g0197a0001c0001t0004g0141 | 3 | 222 | 0.0135 | -8 | c.817 others(23): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP1_chr1_201278506_201337989 | 201285220 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(56): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(11): Show | a0001c0001t0001g0170a0001c0001t0001g0171a0001c0001t0001g0178others(40): Show | 59 | 334 | 0.1767 | -8 | c.202 others(25): Show |
PKP1 | ENSG00000081277.13 | transcript | ENST00000367324.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PKP1_chr1_201278506_201337989 | 201289688 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(55): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0019a0001c0002t0002others(10): Show | a0001c0001t0001g0161a0001c0001t0001g0170a0001c0001t0001g0171others(40): Show | 58 | 334 | 0.1737 | -8 | c.203 others(25): Show |
PKP1 | ENSG00000081277.13 | transcript | ENST00000367324.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PKP1_chr1_201278506_201337989 | 201337769 | TCACACAC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00642.hp1 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0020a0001c0002t0004others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0121a0001c0001t0001g0124others(20): Show | 24 | 334 | 0.0719 | -8 | c.*77 others(19): Show |
PKP1 | ENSG00000081277.13 | transcript | ENST00000367324.8 | protein_coding | 4781 | chr1 | TogoVar | ||||||
| PKP2_chr12_32785755_32901777 | 32858078 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG01081.hp1 HG01106.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0040a0001c0001t0001g0090a0001c0001t0002g0034others(18): Show | 21 | 342 | 0.0614 | -8 | c.117 others(27): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 4/12 | chr12 | TogoVar | ||||||
| PKP2_chr12_32785755_32901777 | 32864309 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG02809.hp2 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0023a0001c0001t0003g0019a0001c0001t0003g0020others(2): Show | 5 | 342 | 0.0146 | -8 | c.117 others(27): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 4/12 | chr12 | TogoVar | ||||||
| PKP2_chr12_32785755_32901777 | 32898420 | TTCTCTCT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(70): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0003a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0067others(69): Show | 73 | 342 | 0.2135 | -8 | c.-16 others(19): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 1644 | chr12 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 401536 | GCCCCGCT others(1): Show |
G | intron_variant | MODIFIER | HG03471.hp1 NA18906.hp1 NA19240.hp1 others(2): Show |
a0001a0003 | a0001c0004a0001c0008a0003c0014 | a0001c0004t0001a0001c0008t0001a0003c0014t0001 | a0001c0004t0001g0008a0001c0004t0001g0194a0001c0008t0001g0195others(2): Show | 5 | 216 | 0.0232 | -8 | c.173 others(25): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 401779 | ACCCCCGA others(1): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG02056.hp2 HG02129.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0012a0001c0003t0001g0117a0001c0007t0001g0003others(4): Show | 7 | 216 | 0.0324 | -8 | c.173 others(27): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 401786 | ACCCCCGG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00609.hp2 others(59): Show |
a0001a0004a0008others(2): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0004others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0013others(59): Show | 62 | 216 | 0.2870 | -8 | c.173 others(27): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 401807 | CGACCCCC others(1): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG02056.hp2 HG02258.hp1 others(3): Show |
a0001 | a0001c0005a0001c0007a0001c0012 | a0001c0005t0001a0001c0007t0001a0001c0012t0001 | a0001c0005t0001g0019a0001c0007t0001g0003a0001c0007t0001g0004others(3): Show | 6 | 216 | 0.0278 | -8 | c.173 others(27): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 401877 | CGACCCCC others(1): Show |
C | intron_variant | MODIFIER | HG01175.hp2 NA19065.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0199a0001c0002t0001g0173a0001c0006t0001g0061 | 3 | 216 | 0.0139 | -8 | c.173 others(27): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 401879 | ACCCCCGG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00609.hp2 others(62): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0005a0001c0006others(10): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0004others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0013others(62): Show | 65 | 216 | 0.3009 | -8 | c.173 others(27): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 401947 | CGACCCCC others(1): Show |
C | intron_variant | MODIFIER | HG02135.hp2 HG02976.hp2 HG03516.hp1 |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0003t0001a0001c0008t0001 | a0001c0001t0001g0079a0001c0003t0001g0169a0001c0008t0001g0196 | 3 | 216 | 0.0139 | -8 | c.173 others(27): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 401949 | ACCCCCGG others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01981.hp2 HG02056.hp1 others(10): Show |
a0001 | a0001c0001a0001c0007a0001c0008others(2): Show | a0001c0001t0001a0001c0007t0001a0001c0008t0001others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0035a0001c0001t0001g0062others(10): Show | 13 | 216 | 0.0602 | -8 | c.173 others(27): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 401965 | ACCCCCGA others(1): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02129.hp1 HG02622.hp2 others(5): Show |
a0001 | a0001c0001a0001c0007a0001c0021 | a0001c0001t0001a0001c0007t0001a0001c0021t0001 | a0001c0001t0001g0012a0001c0001t0001g0063a0001c0001t0001g0074others(5): Show | 8 | 216 | 0.0370 | -8 | c.173 others(27): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 402040 | CGACCCCC others(1): Show |
C | intron_variant | MODIFIER | HG02129.hp1 HG02717.hp2 HG03209.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0012a0001c0001t0001g0181a0001c0001t0001g0183others(3): Show | 6 | 216 | 0.0278 | -8 | c.173 others(27): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 402042 | ACCCCCGG others(1): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0008 | a0001c0001t0001a0001c0005t0001a0001c0008t0001 | a0001c0001t0001g0043a0001c0001t0001g0188a0001c0005t0001g0019others(3): Show | 6 | 216 | 0.0278 | -8 | c.173 others(27): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 402110 | CGACCCCC others(1): Show |
C | intron_variant | MODIFIER | HG01981.hp2 HG02056.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0035a0001c0001t0001g0062a0001c0007t0001g0006 | 3 | 216 | 0.0139 | -8 | c.173 others(25): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 402112 | ACCCCCGG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00609.hp2 others(61): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0005a0001c0006others(9): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0004others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0011others(61): Show | 64 | 216 | 0.2963 | -8 | c.173 others(25): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 402179 | AGACCCCC others(1): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01884.hp2 HG02135.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0030a0001c0001t0001g0032a0001c0001t0001g0048others(5): Show | 8 | 216 | 0.0370 | -8 | c.173 others(25): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 402249 | CGACCCCC others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02135.hp1 others(8): Show |
a0001a0005a0013 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0004others(3): Show | a0001c0001t0001g0032a0001c0001t0001g0048a0001c0001t0001g0055others(8): Show | 11 | 216 | 0.0509 | -8 | c.173 others(25): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 402289 | GCCCCGCT others(1): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp2 HG01515.hp2 others(11): Show |
a0001a0004a0008 | a0001c0001a0001c0009a0001c0011others(2): Show | a0001c0001t0001a0001c0009t0001a0001c0011t0001others(2): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0024others(11): Show | 14 | 216 | 0.0648 | -8 | c.173 others(25): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar |