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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PXN_chr12_120205447_120270730 | 120248492 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00673.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0026others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0026t0001others(3): Show | a0001c0001t0001g0269a0001c0001t0001g0279a0002c0002t0001g0025others(9): Show | 13 | 324 | 0.0401 | -10 | c.13+ others(27): Show |
PXN | ENSG00000089159.17 | transcript | ENST00000637617.2 | protein_coding | 1/14 | chr12 | TogoVar | ||||||
PXT1_chr6_36385551_36447854 | 36399131 | TATTTCAT others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(33): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0096a0002c0002t0001g0011a0002c0002t0001g0151others(32): Show | 36 | 390 | 0.0923 | -10 | c.300 others(27): Show |
PXT1 | ENSG00000179165.12 | transcript | ENST00000454782.3 | protein_coding | 4/4 | chr6 | TogoVar | ||||||
PXT1_chr6_36385551_36447854 | 36408703 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG03471.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0009 | a0001c0001t0001g0264a0001c0001t0008g0362a0001c0001t0009g0363 | 3 | 390 | 0.0077 | -10 | c.170 others(27): Show |
PXT1 | ENSG00000179165.12 | transcript | ENST00000454782.3 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
PXT1_chr6_36385551_36447854 | 36426353 | CGCTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG03130.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 3 | 390 | 0.0077 | -10 | c.-9- others(23): Show |
PXT1 | ENSG00000179165.12 | transcript | ENST00000454782.3 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141245045 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG03130.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0237a0001c0001t0003g0244a0001c0001t0003g0245 | 3 | 384 | 0.0078 | -10 | c.-54 others(29): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PXYLP1_chr3_141226825_141299924 | 141263535 | AAGGAAAG others(3): Show |
A | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0212 | 1 | 384 | 0.0026 | -10 | c.79+ others(25): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | chr3 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141268168 | GGAGAGAG others(3): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG01167.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0102others(21): Show | 28 | 384 | 0.0729 | -10 | c.79+ others(25): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PXYLP1_chr3_141226825_141299924 | 141268198 | AGAGAGAG others(3): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG02647.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0253a0001c0001t0002g0135a0001c0001t0002g0285others(6): Show | 10 | 384 | 0.0260 | -10 | c.79+ others(25): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PXYLP1_chr3_141226825_141299924 | 141268200 | AGAGAGAG others(3): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0246 | 1 | 384 | 0.0026 | -10 | c.79+ others(25): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PXYLP1_chr3_141226825_141299924 | 141268202 | AGAGAGTG others(3): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01123.hp2 HG01261.hp2 others(8): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0196a0001c0001t0001g0234a0001c0001t0001g0328others(8): Show | 11 | 384 | 0.0287 | -10 | c.79+ others(25): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PXYLP1_chr3_141226825_141299924 | 141268204 | AGAGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 2 | 384 | 0.0052 | -10 | c.79+ others(25): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PXYLP1_chr3_141226825_141299924 | 141268206 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG01192.hp2 others(19): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0050a0001c0001t0001g0113others(18): Show | 22 | 384 | 0.0573 | -10 | c.79+ others(25): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PYCR2_chr1_225914878_225929250 | 225927579 | TAAAAAAA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG02698.hp1 HG03017.hp1 HG03239.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0001 | a0001c0001t0001g0007a0001c0001t0010g0034a0001c0002t0001g0002 | 22 | 448 | 0.0491 | -10 | c.-34 others(21): Show |
PYCR2 | ENSG00000143811.20 | transcript | ENST00000343818.11 | protein_coding | 3330 | chr1 | TogoVar | ||||||
PYDC1_chr16_31210962_31222135 | 31220456 | GTTTTTTT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02683.hp2 HG03017.hp2 HG03688.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 6 | 346 | 0.0173 | -10 | c.-34 others(21): Show |
PYDC1 | ENSG00000169900.8 | transcript | ENST00000302964.4 | protein_coding | 3322 | chr16 | TogoVar | ||||||
PYDC5_chr1_158994971_159007751 | 158996767 | ATTTTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG02027.hp2 others(59): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0004others(2): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0002c0002t0004g0000others(2): Show | 62 | 460 | 0.1348 | -10 | c.*31 others(21): Show |
PYDC5 | ENSG00000289721.1 | transcript | ENST00000696987.1 | protein_coding | 3203 | chr1 | TogoVar | ||||||
PYGB_chr20_25243085_25303012 | 25253623 | TAAATAAA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(56): Show |
a0001a0002a0012others(1): Show | a0001c0002a0002c0003a0012c0017others(1): Show | a0001c0002t0002a0002c0003t0001a0002c0003t0014others(3): Show | a0001c0002t0002g0250a0001c0002t0002g0251a0002c0003t0001g0015others(50): Show | 59 | 372 | 0.1586 | -10 | c.243 others(27): Show |
PYGB | ENSG00000100994.12 | transcript | ENST00000216962.9 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PYGB_chr20_25243085_25303012 | 25296693 | GGAATGTG others(3): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG03453.hp1 |
a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0268a0001c0004t0007g0269 | 2 | 372 | 0.0054 | -10 | c.*17 others(19): Show |
PYGB | ENSG00000100994.12 | transcript | ENST00000216962.9 | protein_coding | 20/20 | 175 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
PYGL_chr14_50900217_50949483 | 50942822 | CAAACAAA others(3): Show |
C | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 390 | 0.0026 | -10 | c.243 others(27): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 1/19 | chr14 | TogoVar | ||||||
PYGO1_chr15_55533884_55593345 | 55548707 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG02602.hp2 HG02717.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0012a0002c0002t0037 | a0001c0001t0001g0281a0002c0002t0012g0275a0002c0002t0012g0362others(3): Show | 6 | 412 | 0.0146 | -10 | c.135 others(25): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
PYGO1_chr15_55533884_55593345 | 55554484 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02818.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0051 | a0001c0001t0020g0072a0001c0001t0020g0073a0001c0001t0020g0074others(2): Show | 5 | 412 | 0.0121 | -10 | c.50- others(25): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
PYGO1_chr15_55533884_55593345 | 55574648 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp1 HG03486.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0011a0001c0001t0065others(1): Show | a0001c0001t0006g0047a0001c0001t0011g0018a0001c0001t0011g0019others(2): Show | 5 | 412 | 0.0121 | -10 | c.49+ others(27): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
PYGO1_chr15_55533884_55593345 | 55576455 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(50): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0004a0001c0001t0019others(7): Show | a0001c0001t0002g0325a0001c0001t0004g0003a0001c0001t0004g0009others(46): Show | 53 | 412 | 0.1286 | -10 | c.49+ others(27): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
PYHIN1_chr1_158926552_158982059 | 158976868 | CTATATAT others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02451.hp1 HG02922.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0020 | a0001c0001t0014g0152a0001c0001t0014g0159a0001c0001t0014g0334others(1): Show | 4 | 398 | 0.0101 | -10 | c.*21 others(19): Show |
PYHIN1 | ENSG00000163564.15 | transcript | ENST00000368140.6 | protein_coding | 9/9 | 3141 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
PYM1_chr12_55896413_55932894 | 55905882 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG02080.hp2 HG02683.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0089a0001c0001t0001g0092others(2): Show | 6 | 344 | 0.0174 | -10 | c.38- others(25): Show |
PYM1 | ENSG00000170473.17 | transcript | ENST00000408946.7 | protein_coding | 1/2 | chr12 | TogoVar | ||||||
PYM1_chr12_55896413_55932894 | 55905911 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG02257.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0010 | a0001c0002t0002g0008a0001c0002t0010g0036 | 4 | 344 | 0.0116 | -10 | c.38- others(25): Show |
PYM1 | ENSG00000170473.17 | transcript | ENST00000408946.7 | protein_coding | 1/2 | chr12 | TogoVar | ||||||
PYM1_chr12_55896413_55932894 | 55910252 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0088a0001c0001t0001g0130a0001c0001t0001g0162others(2): Show | 6 | 344 | 0.0174 | -10 | c.38- others(25): Show |
PYM1 | ENSG00000170473.17 | transcript | ENST00000408946.7 | protein_coding | 1/2 | chr12 | TogoVar | ||||||
PYROXD2_chr10_98378568_98420182 | 98387624 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(199): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0004a0001c0011others(7): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0007others(127): Show | 202 | 418 | 0.4833 | -10 | c.144 others(27): Show |
PYROXD2 | ENSG00000119943.13 | transcript | ENST00000370575.5 | protein_coding | 13/15 | chr10 | TogoVar | ||||||
PYROXD2_chr10_98378568_98420182 | 98410087 | TTAAAATA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(190): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0017a0001c0018others(6): Show | a0001c0001t0001a0001c0017t0001a0001c0018t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0007others(123): Show | 193 | 418 | 0.4617 | -10 | c.147 others(25): Show |
PYROXD2 | ENSG00000119943.13 | transcript | ENST00000370575.5 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PYROXD2_chr10_98378568_98420182 | 98415883 | AATCCCCA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0109 | 1 | 418 | 0.0024 | -10 | c.-75 others(19): Show |
PYROXD2 | ENSG00000119943.13 | transcript | ENST00000370575.5 | protein_coding | 702 | chr10 | TogoVar | ||||||
PYURF_chr4_88515998_88528776 | 88516483 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 HG03041.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 | 2 | 446 | 0.0045 | -10 | c.*53 others(21): Show |
PYURF | ENSG00000145337.5 | transcript | ENST00000273968.5 | protein_coding | 4514 | chr4 | TogoVar | ||||||
PZP_chr12_9143840_9213395 | 9193883 | ATCAGGCA others(3): Show |
A | intron_variant | MODIFIER | NA18963.hp1 NA18984.hp2 NA18993.hp2 others(3): Show |
a0002a0014a0019 | a0002c0002a0014c0015a0019c0033 | a0002c0002t0001a0014c0015t0001a0019c0033t0001 | a0002c0002t0001g0046a0002c0002t0001g0137a0002c0002t0001g0144others(3): Show | 6 | 334 | 0.0180 | -10 | c.125 others(27): Show |
PZP | ENSG00000126838.10 | transcript | ENST00000261336.7 | protein_coding | 11/35 | chr12 | TogoVar | ||||||
PZP_chr12_9143840_9213395 | 9197632 | ATATATTA others(3): Show |
A | intron_variant | MODIFIER | HG02280.hp1 NA18522.hp1 NA19240.hp1 |
a0001a0028 | a0001c0026a0028c0042 | a0001c0026t0001a0028c0042t0001 | a0001c0026t0001g0034a0001c0026t0001g0126a0028c0042t0001g0162 | 3 | 334 | 0.0090 | -10 | c.756 others(25): Show |
PZP | ENSG00000126838.10 | transcript | ENST00000261336.7 | protein_coding | 7/35 | chr12 | TogoVar | ||||||
PZP_chr12_9143840_9213395 | 9197643 | TATATAAT others(3): Show |
T | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0038 | a0001c0038t0001 | a0001c0038t0001g0119 | 1 | 334 | 0.0030 | -10 | c.756 others(25): Show |
PZP | ENSG00000126838.10 | transcript | ENST00000261336.7 | protein_coding | 7/35 | chr12 | TogoVar | ||||||
QDPR_chr4_17481395_17517090 | 17496442 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0121 | 1 | 406 | 0.0025 | -10 | c.437 others(27): Show |
QDPR | ENSG00000151552.13 | transcript | ENST00000281243.10 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
QKI_chr6_163409718_163583592 | 163489424 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(199): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(70): Show | a0001c0001t0001g0067a0001c0001t0001g0071a0001c0001t0001g0105others(199): Show | 202 | 302 | 0.6689 | -10 | c.402 others(29): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
QKI_chr6_163409718_163583592 | 163517071 | CTCTCTCT others(3): Show |
C | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0139 | 1 | 302 | 0.0033 | -10 | c.403 others(29): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
QKI_chr6_163409718_163583592 | 163517825 | TGATATTA others(3): Show |
T | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 302 | 0.0033 | -10 | c.403 others(29): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
QPCTL_chr19_45687666_45708987 | 45689511 | TACAAAAC others(3): Show |
T | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 446 | 0.0022 | -10 | c.-31 others(21): Show |
QPCTL | ENSG00000011478.13 | transcript | ENST00000012049.10 | protein_coding | 3154 | chr19 | TogoVar | ||||||
QPCTL_chr19_45687666_45708987 | 45694459 | TTTTTATT others(3): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01261.hp2 others(26): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0006t0005 | a0001c0001t0001g0011a0001c0001t0001g0049a0001c0001t0001g0128others(14): Show | 29 | 446 | 0.0650 | -10 | c.351 others(25): Show |
QPCTL | ENSG00000011478.13 | transcript | ENST00000012049.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
QPCTL_chr19_45687666_45708987 | 45707543 | ATTTGTAA others(3): Show |
A | downstream_gene_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 446 | 0.0022 | -10 | c.*44 others(21): Show |
QPCTL | ENSG00000011478.13 | transcript | ENST00000012049.10 | protein_coding | 3557 | chr19 | TogoVar | ||||||
QPCTL_chr19_45687666_45708987 | 45707951 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01074.hp2 HG01891.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0012others(14): Show | 31 | 446 | 0.0695 | -10 | c.*49 others(21): Show |
QPCTL | ENSG00000011478.13 | transcript | ENST00000012049.10 | protein_coding | 3965 | chr19 | TogoVar | ||||||
QPCT_chr2_37339630_37378322 | 37377965 | GGTGTGTG others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(142): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(120): Show | 145 | 442 | 0.3281 | -10 | c.*51 others(21): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 4644 | chr2 | TogoVar | ||||||
QPRT_chr16_29674180_29703699 | 29691364 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG01433.hp2 NA18939.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0002c0002t0002 | a0001c0001t0001g0007a0001c0001t0001g0148a0001c0001t0001g0152others(5): Show | 11 | 320 | 0.0344 | -10 | c.14- others(25): Show |
QPRT | ENSG00000103485.19 | transcript | ENST00000395384.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
QRFPR_chr4_121323642_121386018 | 121365540 | TATTATAT others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00741.hp2 others(20): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0014 | a0001c0001t0002a0001c0001t0025a0001c0001t0026others(2): Show | a0001c0001t0002g0023a0001c0001t0002g0206a0001c0001t0002g0213others(19): Show | 23 | 384 | 0.0599 | -10 | c.340 others(29): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
QRFPR_chr4_121323642_121386018 | 121380186 | GGAGAGAG others(3): Show |
G | intron_variant | MODIFIER | HG01361.hp1 HG03669.hp1 HG03688.hp1 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0011a0002c0002t0001a0002c0002t0004others(1): Show | a0001c0001t0011g0162a0002c0002t0001g0032a0002c0002t0004g0261others(1): Show | 4 | 384 | 0.0104 | -10 | c.340 others(25): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
QRICH1_chr3_49024707_49099071 | 49043496 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00735.hp1 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0056a0001c0001t0001g0071a0001c0001t0001g0076others(58): Show | 61 | 226 | 0.2699 | -10 | c.178 others(27): Show |
QRICH1 | ENSG00000198218.12 | transcript | ENST00000395443.7 | protein_coding | 6/9 | chr3 | TogoVar | ||||||
QRICH2_chr17_76269049_76313276 | 76269087 | CGCCTGGG others(3): Show |
C | downstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 364 | 0.0028 | -10 | c.*49 others(21): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 4961 | chr17 | TogoVar | ||||||
QRICH2_chr17_76269049_76313276 | 76284168 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01975.hp1 HG02109.hp1 others(9): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0005a0002c0004others(3): Show | a0001c0001t0001a0001c0005t0001a0002c0004t0001others(3): Show | a0001c0001t0001g0221a0001c0001t0001g0224a0001c0005t0001g0169others(9): Show | 12 | 364 | 0.0330 | -10 | c.401 others(29): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 7/18 | chr17 | TogoVar | ||||||
QRICH2_chr17_76269049_76313276 | 76301872 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 364 | 0.0028 | -10 | c.705 others(27): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 3/18 | chr17 | TogoVar | ||||||
QRSL1_chr6_106624578_106673417 | 106624942 | AAAAAAAA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01243.hp2 HG01952.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0014 | a0001c0001t0001g0075a0001c0001t0001g0076a0004c0007t0014g0073others(1): Show | 4 | 422 | 0.0095 | -10 | c.-47 others(21): Show |
QRSL1 | ENSG00000130348.11 | transcript | ENST00000369046.8 | protein_coding | 4635 | chr6 | TogoVar |