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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NFILZ_chr19_8625633_8686151 | 8656391 | CCGCAGCC others(63): Show |
C | intron_variant | MODIFIER | NA18906.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0127a0001c0001t0146 | a0001c0001t0127g0056a0001c0001t0146g0055 | 2 | 366 | 0.0055 | -70 | c.-16 others(91): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NFILZ_chr19_8625633_8686151 | 8656425 | TCCGCAGC others(63): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00741.hp1 HG01167.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(11): Show | a0001c0001t0001g0200a0001c0001t0001g0317a0001c0001t0001g0324others(17): Show | 20 | 366 | 0.0546 | -70 | c.-16 others(91): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NGB_chr14_77260483_77276206 | 77269727 | TTCTCTCT others(63): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG01070.hp1 others(17): Show |
a0001a0004a0008 | a0001c0001a0004c0005a0008c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0031others(8): Show | 20 | 366 | 0.0546 | -70 | c.90- others(83): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
NIBAN2_chr9_127500343_127574073 | 127509761 | CCCTTCCC others(63): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02717.hp2 HG02723.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0003g0001a0001c0001t0003g0144a0001c0001t0004g0101others(7): Show | 11 | 332 | 0.0331 | -70 | c.116 others(87): Show |
NIBAN2 | ENSG00000136830.12 | transcript | ENST00000373312.4 | protein_coding | 9/13 | chr9 | TogoVar | ||||||
NME8_chr7_37843597_37905397 | 37848197 | AGAGAAGA others(63): Show |
A | upstream_gene_variant | MODIFIER | NA18954.hp2 NA18994.hp1 |
a0003a0009 | a0003c0010a0009c0031 | a0003c0010t0001a0009c0031t0001 | a0003c0010t0001g0124a0009c0031t0001g0125 | 2 | 388 | 0.0052 | -70 | c.-77 others(79): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 399 | chr7 | TogoVar | ||||||
NPIPB13_chr16_30217897_30253479 | 30240164 | AACAAAAC others(63): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02809.hp1 HG02809.hp2 others(2): Show |
a0002a0037a0052 | a0002c0008a0037c0039a0052c0049 | a0002c0008t0003a0002c0008t0012a0002c0008t0014others(2): Show | a0002c0008t0003g0114a0002c0008t0012g0015a0002c0008t0014g0017others(2): Show | 5 | 145 | 0.0345 | -70 | c.121 others(87): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 2/7 | chr16 | TogoVar | ||||||
NRIP3_chr11_8975576_9009001 | 9001810 | TCTGTGCA others(63): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0019a0001c0001t0009g0048a0001c0001t0009g0205others(2): Show | 8 | 406 | 0.0197 | -70 | c.174 others(87): Show |
NRIP3 | ENSG00000175352.12 | transcript | ENST00000309166.8 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
NRTN_chr19_5800067_5833324 | 5828759 | ATTGTCGC others(63): Show |
A | downstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 402 | 0.0025 | -70 | c.*58 others(79): Show |
NRTN | ENSG00000171119.3 | transcript | ENST00000303212.3 | protein_coding | 436 | chr19 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79020156 | TCCCTTCC others(63): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01243.hp2 others(1): Show |
a0001a0002 | a0001c0003a0001c0006a0002c0005 | a0001c0003t0012a0001c0006t0001a0002c0005t0005others(1): Show | a0001c0003t0012g0019a0001c0006t0001g0023a0002c0005t0005g0002others(1): Show | 4 | 24 | 0.1667 | -70 | c.326 others(91): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NTF4_chr19_49056128_49069818 | 49066548 | CTGGGTCT others(63): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00733.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0002g0003others(3): Show | 51 | 396 | 0.1288 | -70 | c.-28 others(81): Show |
NTF4 | ENSG00000225950.9 | transcript | ENST00000593537.2 | protein_coding | 1731 | chr19 | TogoVar | ||||||
NUBP1_chr16_10738842_10774351 | 10764778 | AGTCTGCT others(63): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143a0001c0001t0001g0278 | 2 | 424 | 0.0047 | -70 | c.820 others(87): Show |
NUBP1 | ENSG00000103274.11 | transcript | ENST00000283027.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NXPE1_chr11_114513934_114564881 | 114526438 | TTAAATTG others(63): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(152): Show |
a0001a0002a0004others(7): Show | a0001c0001a0002c0021a0004c0004others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(17): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0004others(108): Show | 155 | 360 | 0.4306 | -70 | c.895 others(87): Show |
NXPE1 | ENSG00000095110.9 | transcript | ENST00000534921.3 | protein_coding | 7/8 | chr11 | TogoVar | ||||||
ODF2L_chr1_86341837_86401323 | 86390732 | AATGGGGA others(63): Show |
A | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0281 | 1 | 406 | 0.0025 | -70 | c.-59 others(87): Show |
ODF2L | ENSG00000122417.16 | transcript | ENST00000460698.7 | protein_coding | 1/16 | chr1 | TogoVar | ||||||
OGA_chr10_101779450_101823444 | 101819584 | CATGGTCC others(63): Show |
C | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02965.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0058a0001c0004t0003g0059a0001c0004t0003g0060others(1): Show | 4 | 346 | 0.0116 | -70 | c.-16 others(81): Show |
OGA | ENSG00000198408.14 | transcript | ENST00000361464.8 | protein_coding | 1141 | chr10 | TogoVar | ||||||
OGFOD3_chr17_82384210_82423586 | 82386196 | CCTTCCCC others(63): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0010a0001c0021 | a0001c0001t0031a0001c0010t0014a0001c0021t0033 | a0001c0001t0031g0020a0001c0010t0014g0156a0001c0010t0014g0162others(1): Show | 4 | 348 | 0.0115 | -70 | c.*61 others(81): Show |
OGFOD3 | ENSG00000181396.13 | transcript | ENST00000313056.10 | protein_coding | 3013 | chr17 | TogoVar | ||||||
OGFOD3_chr17_82384210_82423586 | 82386253 | TGTCCTCC others(63): Show |
T | downstream_gene_variant | MODIFIER | HG02647.hp1 HG03209.hp1 HG03471.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0010a0001c0003t0030a0001c0004t0010 | a0001c0003t0010g0066a0001c0003t0030g0065a0001c0004t0010g0068 | 3 | 348 | 0.0086 | -70 | c.*60 others(81): Show |
OGFOD3 | ENSG00000181396.13 | transcript | ENST00000313056.10 | protein_coding | 2956 | chr17 | TogoVar | ||||||
OPTN_chr10_13095163_13143308 | 13115457 | TTATATAA others(63): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269a0001c0001t0001g0291a0001c0001t0001g0371others(2): Show | 5 | 418 | 0.0120 | -70 | c.553 others(85): Show |
OPTN | ENSG00000123240.17 | transcript | ENST00000378747.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
OR10R2_chr1_158467220_158485936 | 158473774 | TCCTCCCT others(63): Show |
T | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 446 | 0.0022 | -70 | c.27+ others(85): Show |
OR10R2 | ENSG00000198965.5 | transcript | ENST00000641067.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
OR2L13_chr1_248090184_248106163 | 248103065 | ATAATTAT others(63): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp2 HG02109.hp2 HG02280.hp2 others(23): Show |
a0002a0005 | a0002c0002a0005c0004 | a0002c0002t0004a0002c0002t0005a0005c0004t0008 | a0002c0002t0004g0021a0002c0002t0004g0022a0002c0002t0004g0024others(9): Show | 26 | 440 | 0.0591 | -70 | c.*27 others(81): Show |
OR2L13 | ENSG00000196071.6 | transcript | ENST00000358120.4 | protein_coding | 1903 | chr1 | TogoVar | ||||||
OR2M3_chr1_248192265_248217925 | 248213437 | ATGTATAT others(63): Show |
A | downstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0048 | 1 | 410 | 0.0024 | -70 | c.*94 others(81): Show |
OR2M3 | ENSG00000228198.3 | transcript | ENST00000641626.1 | protein_coding | 513 | chr1 | TogoVar | ||||||
OR2M3_chr1_248192265_248217925 | 248213453 | GTATATAT others(63): Show |
G | downstream_gene_variant | MODIFIER | HG00741.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0009 | 2 | 410 | 0.0049 | -70 | c.*94 others(81): Show |
OR2M3 | ENSG00000228198.3 | transcript | ENST00000641626.1 | protein_coding | 529 | chr1 | TogoVar | ||||||
OR2M3_chr1_248192265_248217925 | 248213476 | TATATGTA others(63): Show |
T | downstream_gene_variant | MODIFIER | HG01934.hp2 HG02027.hp1 HG02056.hp2 others(13): Show |
a0001a0008 | a0001c0002a0008c0012 | a0001c0002t0002a0001c0002t0021a0001c0002t0085others(1): Show | a0001c0002t0002g0002a0001c0002t0021g0002a0001c0002t0085g0002others(1): Show | 16 | 410 | 0.0390 | -70 | c.*94 others(81): Show |
OR2M3 | ENSG00000228198.3 | transcript | ENST00000641626.1 | protein_coding | 552 | chr1 | TogoVar | ||||||
OR2T2_chr1_248440637_248460725 | 248454444 | CTAACGTG others(63): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02258.hp2 | a0012 | a0012c0019 | a0012c0019t0017 | a0012c0019t0017g0128 | 1 | 329 | 0.0030 | -70 | c.*67 others(79): Show |
OR2T2 | ENSG00000196240.6 | transcript | ENST00000641925.2 | protein_coding | 4/4 | 677 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
OR4M2B_chr15_21632909_21643992 | 21642116 | CATATATG others(63): Show |
C | downstream_gene_variant | MODIFIER | NA18967.hp2 NA18973.hp1 |
a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0000 | 2 | 215 | 0.0093 | -70 | c.*31 others(81): Show |
OR4M2B | ENSG00000182974.3 | transcript | ENST00000332663.3 | protein_coding | 3125 | chr15 | TogoVar | ||||||
OR6K2_chr1_158694678_158705652 | 158697728 | CCTTTCCC others(63): Show |
C | downstream_gene_variant | MODIFIER | NA18976.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 462 | 0.0022 | -70 | c.*18 others(81): Show |
OR6K2 | ENSG00000196171.3 | transcript | ENST00000359610.3 | protein_coding | 1949 | chr1 | TogoVar | ||||||
OSBPL10_chr3_31655825_31986262 | 31812748 | AAGAAAGA others(63): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01167.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0011 | a0001c0001t0001a0001c0001t0002a0002c0005t0002others(1): Show | a0001c0001t0001g0133a0001c0001t0001g0155a0001c0001t0002g0082others(2): Show | 5 | 186 | 0.0269 | -70 | c.729 others(89): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | ||||||
OVCA2_chr17_2037022_2048425 | 2045971 | GGCGTGGT others(63): Show |
G | downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 384 | 0.0026 | -70 | c.*28 others(81): Show |
OVCA2 | ENSG00000262664.3 | transcript | ENST00000572195.3 | protein_coding | 2547 | chr17 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3680427 | ATCCTCCA others(63): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02257.hp1 others(11): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0189a0001c0001t0001g0286a0001c0006t0001g0182others(10): Show | 14 | 362 | 0.0387 | -70 | c.106 others(87): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
P2RY12_chr3_151331843_151389753 | 151368624 | TATTTTAT others(63): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133a0001c0001t0001g0295a0001c0001t0001g0298 | 3 | 396 | 0.0076 | -70 | c.-18 others(91): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
P2RY12_chr3_151331843_151389753 | 151368629 | TATTTCAT others(63): Show |
T | intron_variant | MODIFIER | HG02300.hp2 HG03225.hp2 HG03486.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0002 | a0001c0001t0001g0084a0001c0001t0001g0104a0001c0001t0001g0165others(5): Show | 8 | 396 | 0.0202 | -70 | c.-18 others(91): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
PABIR2_chrX_134764566_134802205 | 134788082 | TTATATGT others(63): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 217 | 0.0046 | -70 | c.435 others(85): Show |
PABIR2 | ENSG00000156504.17 | transcript | ENST00000343004.10 | protein_coding | 6/9 | chrX | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 163219619 | CTTTCCCA others(63): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG02809.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0038a0001c0001t0001g0053a0001c0001t0003g0007others(3): Show | 6 | 130 | 0.0462 | -70 | c.614 others(89): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PAH_chr12_102831889_102922244 | 102848407 | GGGACACC others(63): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(68): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0020others(67): Show | 71 | 312 | 0.2276 | -70 | c.913 others(87): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99683019 | GGAAAGAA others(63): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01261.hp2 others(13): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0008a0004c0006t0001 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(13): Show | 16 | 380 | 0.0421 | -70 | c.252 others(87): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69300714 | TTCTTTCT others(63): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 284 | 0.0035 | -70 | c.-27 others(89): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69300733 | TTTCTTTC others(63): Show |
T | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 284 | 0.0035 | -70 | c.-27 others(89): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69300878 | TTTCTTTC others(63): Show |
T | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 284 | 0.0035 | -70 | c.-27 others(89): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69300896 | CCTTCCTT others(63): Show |
C | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 284 | 0.0035 | -70 | c.-27 others(89): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44113309 | ATTGTTAC others(63): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01069.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0282a0001c0001t0002g0145a0001c0001t0002g0222others(20): Show | 23 | 332 | 0.0693 | -70 | c.274 others(87): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44114405 | GGCCCTGC others(63): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02055.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0014a0001c0001t0021others(4): Show | a0001c0001t0003g0328a0001c0001t0014g0131a0001c0001t0021g0090others(4): Show | 7 | 332 | 0.0211 | -70 | c.274 others(87): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | chr22 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62133149 | TATTATTT others(63): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00735.hp2 others(11): Show |
a0001a0003a0006others(8): Show | a0001c0088a0003c0009a0006c0068others(9): Show | a0001c0088t0010a0003c0009t0011a0006c0068t0011others(9): Show | a0001c0088t0010g0016a0003c0009t0011g0038a0003c0009t0011g0065others(11): Show | 14 | 158 | 0.0886 | -70 | c.527 others(89): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAXBP1_chr21_32728899_32776755 | 32771879 | AGAGAGAG others(63): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00609.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(22): Show | 28 | 360 | 0.0778 | -70 | c.-28 others(79): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 125 | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45898529 | ACCCCTCT others(63): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02630.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0209a0001c0001t0002g0220a0001c0001t0002g0242others(1): Show | 4 | 292 | 0.0137 | -70 | c.166 others(86): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45898552 | AGCCTCCC others(63): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0216 | 1 | 292 | 0.0034 | -70 | c.166 others(86): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100264126 | TATATATA others(63): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 174 | 0.0058 | -70 | c.819 others(87): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PCDH15_chr10_53797771_54806231 | 54307038 | GTGTATAT others(63): Show |
G | intron_variant | MODIFIER | HG02602.hp1 NA19240.hp2 |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0004a0005c0005t0002 | a0003c0003t0004g0005a0005c0005t0002g0094 | 2 | 102 | 0.0196 | -70 | c.876 others(89): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54307040 | GTATATAT others(63): Show |
G | intron_variant | MODIFIER | NA20905.hp2 | a0006 | a0006c0006 | a0006c0006t0005 | a0006c0006t0005g0055 | 1 | 102 | 0.0098 | -70 | c.876 others(89): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54307038 | GTGTATAT others(63): Show |
G | intron_variant | MODIFIER | HG02602.hp1 NA19240.hp2 |
a0003a0005 | a0003c0003a0005c0035 | a0003c0003t0002a0005c0035t0001 | a0003c0003t0002g0005a0005c0035t0001g0086 | 2 | 94 | 0.0213 | -70 | c.876 others(89): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54307040 | GTATATAT others(63): Show |
G | intron_variant | MODIFIER | NA20905.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0053 | 1 | 94 | 0.0106 | -70 | c.876 others(89): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741164 | CGGGGGGG others(63): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0003 | a0001c0003t0038 | a0001c0003t0038g0335 | 1 | 358 | 0.0028 | -70 | c.143 others(85): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |