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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MRPL45_chr17_38292168_38328211 | 38313310 | AAATATAT others(60): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 287 | 0.0035 | -67 | c.462 others(84): Show |
MRPL45 | ENSG00000278845.5 | transcript | ENST00000613675.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MTM1_chrX_150563621_150678143 | 150623594 | TTTCAAGG others(60): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 277 | 0.0036 | -67 | c.444 others(84): Show |
MTM1 | ENSG00000171100.16 | transcript | ENST00000370396.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
MTNR1A_chr4_186528655_186560567 | 186547311 | CACACCAC others(60): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0071 | 1 | 396 | 0.0025 | -67 | c.184 others(84): Show |
MTNR1A | ENSG00000168412.7 | transcript | ENST00000307161.5 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
NAA50_chr3_113711458_113751249 | 113748114 | GTATCCCT others(60): Show |
G | upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 400 | 0.0025 | -67 | c.-22 others(78): Show |
NAA50 | ENSG00000121579.14 | transcript | ENST00000240922.8 | protein_coding | 1866 | chr3 | TogoVar | ||||||
NALF1_chr13_107158510_107872496 | 107708511 | GACAAGCT others(60): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG02055.hp1 HG02155.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0011a0001c0001t0012others(6): Show | a0001c0001t0003g0108a0001c0001t0011g0043a0001c0001t0012g0023others(6): Show | 9 | 128 | 0.0703 | -67 | c.915 others(88): Show |
NALF1 | ENSG00000204442.4 | transcript | ENST00000375915.4 | protein_coding | 1/2 | chr13 | TogoVar | ||||||
NASP_chr1_45579041_45623893 | 45621252 | TACCAGAG others(60): Show |
T | downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0278 | 1 | 300 | 0.0033 | -67 | c.*31 others(78): Show |
NASP | ENSG00000132780.17 | transcript | ENST00000350030.8 | protein_coding | 2360 | chr1 | TogoVar | ||||||
NCOA2_chr8_70104782_70408808 | 70407270 | TAGTATAA others(60): Show |
T | upstream_gene_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0017 | 1 | 322 | 0.0031 | -67 | c.-37 others(78): Show |
NCOA2 | ENSG00000140396.13 | transcript | ENST00000452400.7 | protein_coding | 3463 | chr8 | TogoVar | ||||||
NCOA6_chr20_34709774_34830651 | 34817144 | AGCAAAAG others(60): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0113 | 1 | 290 | 0.0035 | -67 | c.-16 others(86): Show |
NCOA6 | ENSG00000198646.14 | transcript | ENST00000359003.7 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
NEIL2_chr8_11764710_11792345 | 11781750 | GTCTTTGA others(60): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 446 | 0.0022 | -67 | c.492 others(84): Show |
NEIL2 | ENSG00000154328.16 | transcript | ENST00000284503.7 | protein_coding | 3/4 | chr8 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241806161 | CCCCTCAG others(60): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0041a0001c0001t0001g0131a0001c0002t0001g0004others(2): Show | 6 | 319 | 0.0188 | -67 | c.-31 others(78): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3031 | chr2 | TogoVar | ||||||
NGB_chr14_77260483_77276206 | 77269717 | TCTCTCTC others(60): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 366 | 0.0027 | -67 | c.90- others(80): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
NGB_chr14_77260483_77276206 | 77269736 | TCTCTCTC others(60): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 NA18953.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015 | a0001c0001t0001g0073a0001c0001t0003g0039a0001c0001t0003g0124others(1): Show | 5 | 366 | 0.0137 | -67 | c.90- others(80): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
NME7_chr1_169127531_169372797 | 169355054 | AATATACT others(60): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG02965.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0143a0001c0001t0002g0144a0001c0001t0005g0141 | 3 | 302 | 0.0099 | -67 | c.3+1 others(82): Show |
NME7 | ENSG00000143156.14 | transcript | ENST00000367811.8 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
NME8_chr7_37843597_37905397 | 37848197 | AGAGAAGA others(60): Show |
A | upstream_gene_variant | MODIFIER | NA18940.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0123 | 1 | 388 | 0.0026 | -67 | c.-77 others(76): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 399 | chr7 | TogoVar | ||||||
NME8_chr7_37843597_37905397 | 37848218 | GAAGAAGA others(60): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0178 | 1 | 388 | 0.0026 | -67 | c.-75 others(76): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 378 | chr7 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131672813 | CTCCCTTA others(60): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0011 | 1 | 86 | 0.0116 | -67 | c.83- others(86): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NTM_chr11_131365615_132341822 | 131672821 | AAACAGAG others(60): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG02145.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0002t0002 | a0001c0001t0002g0035a0001c0001t0008g0045a0001c0001t0008g0070others(1): Show | 4 | 86 | 0.0465 | -67 | c.83- others(86): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NTM_chr11_131365615_132341822 | 131672955 | CAACAGAG others(60): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0023a0001c0001t0002g0022a0001c0001t0004g0005others(4): Show | 7 | 86 | 0.0814 | -67 | c.83- others(86): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NUDT7_chr16_77717514_77747260 | 77719717 | CACTGGAT others(60): Show |
C | upstream_gene_variant | MODIFIER | HG01175.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0249 | 1 | 462 | 0.0022 | -67 | c.-28 others(78): Show |
NUDT7 | ENSG00000140876.11 | transcript | ENST00000268533.9 | protein_coding | 2796 | chr16 | TogoVar | ||||||
OC90_chr8_132019216_132064382 | 132028546 | GAAAGAAA others(60): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 |
a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0195a0001c0008t0002g0201 | 2 | 408 | 0.0049 | -67 | c.113 others(84): Show |
OC90 | ENSG00000253117.5 | transcript | ENST00000254627.4 | protein_coding | 13/13 | chr8 | TogoVar | ||||||
OR10R2_chr1_158467220_158485936 | 158473770 | TCCTTCCT others(60): Show |
T | intron_variant | MODIFIER | NA18906.hp1 NA19240.hp2 |
a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0055 | 2 | 446 | 0.0045 | -67 | c.27+ others(82): Show |
OR10R2 | ENSG00000198965.5 | transcript | ENST00000641067.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
OR11H4_chr14_20234286_20249349 | 20236400 | TATATATA others(60): Show |
T | upstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 439 | 0.0023 | -67 | c.-29 others(78): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 2885 | chr14 | TogoVar | ||||||
OSBPL10_chr3_31655825_31986262 | 31812719 | AAAGAAAG others(60): Show |
A | intron_variant | MODIFIER | NA19060.hp1 NA19060.hp2 |
a0001a0002 | a0001c0002a0002c0007 | a0001c0002t0001a0002c0007t0004 | a0001c0002t0001g0048a0002c0007t0004g0136 | 2 | 186 | 0.0108 | -67 | c.729 others(86): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | ||||||
OSTF1_chr9_75083514_75152265 | 75128460 | TATATATA others(60): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0168 | 1 | 366 | 0.0027 | -67 | c.132 others(82): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OSTF1_chr9_75083514_75152265 | 75128514 | TATATATT others(60): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG01192.hp1 HG01346.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0005g0008a0001c0001t0005g0270a0001c0001t0008g0054others(9): Show | 12 | 366 | 0.0328 | -67 | c.132 others(82): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OTUD7A_chr15_31470398_31875673 | 31510905 | TATATGTA others(60): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0083 | 1 | 244 | 0.0041 | -67 | c.894 others(84): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
OTUD7A_chr15_31470398_31875673 | 31510951 | TATATGTA others(60): Show |
T | intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0003 | a0002c0003t0069 | a0002c0003t0069g0165 | 1 | 244 | 0.0041 | -67 | c.894 others(84): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3686440 | CCCCCCGC others(60): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 362 | 0.0028 | -67 | c.981 others(84): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
P3H3_chr12_6823407_6844847 | 6827856 | CGGGGGTG others(60): Show |
C | upstream_gene_variant | MODIFIER | HG03491.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0003 | 1 | 452 | 0.0022 | -67 | c.-58 others(76): Show |
P3H3 | ENSG00000110811.20 | transcript | ENST00000290510.10 | protein_coding | 550 | chr12 | TogoVar | ||||||
PADI2_chr1_17061761_17124451 | 17088872 | ACTCCAGC others(60): Show |
A | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0326 | 1 | 356 | 0.0028 | -67 | c.656 others(84): Show |
PADI2 | ENSG00000117115.13 | transcript | ENST00000375486.9 | protein_coding | 6/15 | chr1 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300870 | TTTCTTTC others(60): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0002c0002t0002 | a0001c0001t0001g0054a0001c0001t0001g0090a0001c0001t0001g0091others(2): Show | 5 | 284 | 0.0176 | -67 | c.-27 others(86): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PARG_chr10_49813279_49947027 | 49900226 | CCACAACC others(60): Show |
C | intron_variant | MODIFIER | NA18983.hp2 NA18988.hp2 NA19064.hp1 others(1): Show |
a0001a0012 | a0001c0001a0012c0007 | a0001c0001t0002a0012c0007t0002 | a0001c0001t0002g0059a0001c0001t0002g0117a0001c0001t0002g0127others(1): Show | 4 | 292 | 0.0137 | -67 | c.173 others(88): Show |
PARG | ENSG00000227345.9 | transcript | ENST00000616448.2 | protein_coding | 7/17 | chr10 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44113201 | GTTACTAA others(60): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(102): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0096others(102): Show | 105 | 332 | 0.3163 | -67 | c.274 others(84): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44115409 | GTTATTAA others(60): Show |
G | intron_variant | MODIFIER | HG03704.hp2 HG04184.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0044a0002c0003t0001 | a0001c0002t0044g0018a0002c0003t0001g0063 | 2 | 332 | 0.0060 | -67 | c.274 others(84): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44115668 | GTTACTAA others(60): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(107): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0004a0001c0001t0001g0023a0001c0001t0001g0050others(107): Show | 110 | 332 | 0.3313 | -67 | c.274 others(84): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PCDHB1_chr5_141046374_141064346 | 141051897 | CCGGAGAG others(60): Show |
C | frameshift_variant | HIGH | HG00140.hp1 | a0010 | a0010c0016 | a0010c0016t0001 | a0010c0016t0001g0000 | 1 | 422 | 0.0024 | -67 | c.431 others(74): Show |
p.Glu others(5): Show |
PCDHB1 | ENSG00000171815.6 | transcript | ENST00000306549.6 | protein_coding | 1/1 | 528/7973 | 431/2457 | 144/818 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
PCOLCE2_chr3_142812874_142894083 | 142824176 | AACTAAGA others(60): Show |
A | intron_variant | MODIFIER | NA18980.hp2 NA19070.hp2 NA19075.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0001 | a0001c0001t0001g0125a0001c0001t0006g0089a0002c0002t0001g0169others(1): Show | 4 | 342 | 0.0117 | -67 | c.866 others(82): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 6/8 | chr3 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 291613 | ACTGCGTG others(60): Show |
A | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060 | 1 | 360 | 0.0028 | -67 | c.164 others(86): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31866877 | AGTCAGGG others(60): Show |
A | intron_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0092 | 1 | 216 | 0.0046 | -67 | c.476 others(86): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | chr5 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402318 | ATATACAC others(60): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG02071.hp1 NA18612.hp1 others(11): Show |
a0001a0002a0006 | a0001c0011a0002c0019a0006c0007 | a0001c0011t0003a0002c0019t0003a0006c0007t0003 | a0001c0011t0003g0034a0001c0011t0003g0038a0001c0011t0003g0052others(11): Show | 14 | 206 | 0.0680 | -67 | c.844 others(88): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PELI3_chr11_66461905_66482337 | 66464198 | TAAAGACA others(60): Show |
T | upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 396 | 0.0025 | -67 | c.-28 others(78): Show |
PELI3 | ENSG00000174516.15 | transcript | ENST00000320740.12 | protein_coding | 2706 | chr11 | TogoVar | ||||||
PGA4_chr11_61217347_61236694 | 61221906 | GAGAGAGA others(60): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02148.hp2 HG03834.hp2 others(3): Show |
a0001a0005a0012 | a0001c0001a0005c0007a0012c0008 | a0001c0001t0001a0005c0007t0001a0012c0008t0001 | a0001c0001t0001g0022a0001c0001t0001g0028a0005c0007t0001g0023others(1): Show | 6 | 304 | 0.0197 | -67 | c.-49 others(76): Show |
PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 440 | chr11 | TogoVar | ||||||
PGA5_chr11_61236175_61256444 | 61240732 | GAGAGAGA others(60): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01261.hp1 HG01496.hp2 others(45): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0003others(9): Show | a0001c0001t0003g0053a0001c0002t0002g0031a0001c0002t0002g0051others(23): Show | 48 | 406 | 0.1182 | -67 | c.-49 others(76): Show |
PGA5 | ENSG00000256713.8 | transcript | ENST00000312403.10 | protein_coding | 442 | chr11 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88710469 | TGTGTGTG others(60): Show |
T | downstream_gene_variant | MODIFIER | HG02074.hp2 HG02809.hp1 |
a0008a0015 | a0008c0013a0015c0131 | a0008c0013t0005a0015c0131t0001 | a0008c0013t0005g0010a0015c0131t0001g0142 | 2 | 282 | 0.0071 | -67 | c.*50 others(78): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 4868 | chr16 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88710534 | CGCGTGTG others(60): Show |
C | downstream_gene_variant | MODIFIER | HG02135.hp1 | a0009 | a0009c0064 | a0009c0064t0001 | a0009c0064t0001g0105 | 1 | 282 | 0.0036 | -67 | c.*50 others(78): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 4803 | chr16 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88710598 | CAGTGCGT others(60): Show |
C | downstream_gene_variant | MODIFIER | HG01071.hp2 | a0089 | a0089c0062 | a0089c0062t0001 | a0089c0062t0001g0067 | 1 | 282 | 0.0036 | -67 | c.*49 others(78): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 4739 | chr16 | TogoVar | ||||||
PIGZ_chr3_196941356_196973833 | 196948870 | TCCTTCCT others(60): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(31): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0006a0002c0025others(7): Show | a0001c0001t0001a0001c0006t0001a0002c0025t0001others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0115a0001c0001t0001g0272others(24): Show | 34 | 424 | 0.0802 | -67 | c.212 others(82): Show |
PIGZ | ENSG00000119227.8 | transcript | ENST00000412723.6 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
PIH1D1_chr19_49441298_49456814 | 49444129 | TCTTTCTC others(60): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(202): Show |
a0001a0003a0005others(3): Show | a0001c0001a0003c0003a0005c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0004a0001c0001t0002g0006a0001c0001t0002g0011others(36): Show | 205 | 366 | 0.5601 | -67 | c.*21 others(78): Show |
PIH1D1 | ENSG00000104872.11 | transcript | ENST00000262265.10 | protein_coding | 2168 | chr19 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109353234 | CCTATAAT others(60): Show |
C | intron_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028 | 1 | 346 | 0.0029 | -67 | c.176 others(86): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PKD1L1_chr7_47769614_47953466 | 47946843 | GCTAGTGC others(60): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02257.hp1 others(10): Show |
a0001a0010a0021others(8): Show | a0001c0013a0010c0005a0021c0031others(9): Show | a0001c0013t0001a0010c0005t0002a0021c0031t0001others(9): Show | a0001c0013t0001g0016a0010c0005t0002g0009a0021c0031t0001g0011others(10): Show | 13 | 306 | 0.0425 | -67 | c.44+ others(82): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 1/56 | chr7 | TogoVar |