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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYT1_chr20_64159452_64247253 | 64214212 | TGTGGGAG others(89): Show |
T | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 223 | 0.0045 | -96 | c.163 others(113): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NCBP2L_chrX_107772733_107800829 | 107782256 | TATATAAA others(89): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0239 | 1 | 303 | 0.0033 | -96 | c.-73 others(113): Show |
NCBP2L | ENSG00000170935.8 | transcript | ENST00000509000.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
NCEH1_chr3_172625249_172716067 | 172712399 | CTTTTTTT others(89): Show |
C | upstream_gene_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0220 | 1 | 332 | 0.0030 | -96 | c.-15 others(107): Show |
NCEH1 | ENSG00000144959.11 | transcript | ENST00000475381.7 | protein_coding | 1333 | chr3 | TogoVar | ||||||
NDST3_chr4_118029486_118263634 | 118066554 | TATGTTAT others(89): Show |
T | intron_variant | MODIFIER | HG01884.hp1 NA21309.hp2 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0002a0001c0005t0001 | a0001c0004t0002g0198a0001c0005t0001g0109 | 2 | 216 | 0.0093 | -96 | c.981 others(115): Show |
NDST3 | ENSG00000164100.9 | transcript | ENST00000296499.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NDST4_chr4_114822763_115118620 | 115021461 | GTACACAC others(89): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00609.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0019a0001c0001t0001g0029others(38): Show | 41 | 190 | 0.2158 | -96 | c.979 others(115): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
NDST4_chr4_114822763_115118620 | 115021663 | TCCACATA others(89): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02647.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0065a0001c0001t0001g0097a0001c0001t0001g0132others(9): Show | 12 | 190 | 0.0632 | -96 | c.979 others(115): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232900331 | CGCTCTCA others(89): Show |
C | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0351 | 1 | 362 | 0.0028 | -96 | c.829 others(113): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232900372 | ACACACAC others(89): Show |
A | intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0212 | 1 | 362 | 0.0028 | -96 | c.829 others(113): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232900517 | CTTAGACA others(89): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG00741.hp2 others(38): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(13): Show | a0001c0001t0001g0043a0001c0001t0001g0125a0001c0001t0001g0165others(38): Show | 41 | 362 | 0.1133 | -96 | c.829 others(113): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
NHLRC2_chr10_113849661_113922194 | 113888805 | GTTGAAAC others(89): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0010 | a0010c0012 | a0010c0012t0024 | a0010c0012t0024g0042 | 1 | 358 | 0.0028 | -96 | c.103 others(115): Show |
NHLRC2 | ENSG00000196865.4 | transcript | ENST00000369301.3 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
NINJ2_chr12_559296_668445 | 609244 | ACGCTAGG others(89): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01168.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0160a0001c0001t0001g0172a0001c0001t0001g0174others(2): Show | 5 | 404 | 0.0124 | -96 | c.34- others(113): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
NINJ2_chr12_559296_668445 | 609246 | GCTAGGGG others(89): Show |
G | intron_variant | MODIFIER | NA18983.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0201 | 2 | 404 | 0.0050 | -96 | c.34- others(113): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
NOL4L_chr20_32438059_32590333 | 32488766 | CCTTCCTT others(89): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0163 | 1 | 196 | 0.0051 | -96 | c.700 others(115): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 4/10 | chr20 | TogoVar | ||||||
NOP14_chr4_2932936_2968406 | 2945903 | GCTGCCGT others(89): Show |
G | intron_variant | MODIFIER | HG01975.hp2 HG02630.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0011 | a0001c0001t0005g0161a0002c0002t0011g0076 | 2 | 422 | 0.0047 | -96 | c.163 others(113): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 11/17 | chr4 | TogoVar | ||||||
NPIPB4_chr16_21829582_21862756 | 21830049 | AGTGATTA others(89): Show |
A | downstream_gene_variant | MODIFIER | NA18960.hp1 NA18977.hp1 |
a0086a0090 | a0086c0096a0090c0097 | a0086c0096t0001a0090c0097t0001 | a0086c0096t0001g0095a0090c0097t0001g0096 | 2 | 204 | 0.0098 | -96 | c.*45 others(107): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 4532 | chr16 | TogoVar | ||||||
NPRL3_chr16_80386_143673 | 138435 | GAGGGCAG others(89): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG02109.hp2 HG02145.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0004 | a0001c0001t0012g0316a0001c0001t0012g0317a0001c0002t0004g0342 | 3 | 350 | 0.0086 | -96 | c.-68 others(111): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131928646 | TCTGTTTG others(89): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0014a0001c0001t0009g0015 | 2 | 86 | 0.0233 | -96 | c.167 others(115): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NTN1_chr17_9016510_9249000 | 9226421 | CGGTCTCG others(89): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 | 1 | 258 | 0.0039 | -96 | c.148 others(115): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NUP62CL_chrX_107118427_107211433 | 107204721 | TTTATTTA others(89): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01975.hp1 HG02300.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015a0001c0001t0002g0016a0001c0001t0002g0017others(8): Show | 11 | 280 | 0.0393 | -96 | c.-92 others(113): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 1/8 | chrX | TogoVar | ||||||
NXN_chr17_794310_984776 | 949577 | TCCCCGCG others(89): Show |
T | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 242 | 0.0041 | -96 | c.360 others(115): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
OBP2A_chr9_135541126_135554969 | 135548977 | ACTCTGGG others(89): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01255.hp2 HG02027.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0011a0002c0002t0002g0031a0002c0002t0002g0053others(3): Show | 11 | 455 | 0.0242 | -96 | c.490 others(111): Show |
OBP2A | ENSG00000122136.14 | transcript | ENST00000371776.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OBP2A_chr9_135541126_135554969 | 135548993 | CGGTCTGG others(89): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG02896.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0018a0002c0002t0002g0048a0002c0002t0002g0056others(1): Show | 5 | 455 | 0.0110 | -96 | c.491 others(110): Show |
OBP2A | ENSG00000122136.14 | transcript | ENST00000371776.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OBP2A_chr9_135541126_135554969 | 135549139 | TCTGGGCT others(89): Show |
T | intron_variant | MODIFIER | NA19086.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0049 | 1 | 455 | 0.0022 | -96 | c.491 others(110): Show |
OBP2A | ENSG00000122136.14 | transcript | ENST00000371776.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OPCML_chr11_132409981_133537501 | 133140892 | CGAAGACG others(89): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0055 | 1 | 68 | 0.0147 | -96 | c.62- others(115): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68325687 | CGTTTTCC others(89): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02630.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0021a0001c0001t0003g0151a0001c0001t0005g0152 | 3 | 155 | 0.0194 | -96 | c.155 others(115): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | ||||||
OR1F1_chr16_3183204_3211556 | 3197817 | GGGAGAAG others(89): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0176a0003c0003t0005g0177 | 2 | 328 | 0.0061 | -96 | c.-12 others(113): Show |
OR1F1 | ENSG00000168124.3 | transcript | ENST00000304646.3 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
OR4N4C_chr15_21646844_21657968 | 21653406 | AATATATT others(89): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp1 HG03130.hp1 NA19240.hp1 |
a0007 | a0007c0009 | a0007c0009t0004 | a0007c0009t0004g0000 | 3 | 216 | 0.0139 | -96 | c.*52 others(105): Show |
OR4N4C | ENSG00000279408.3 | transcript | ENST00000623441.1 | protein_coding | 439 | chr15 | TogoVar | ||||||
OSTF1_chr9_75083514_75152265 | 75128485 | TATATATA others(89): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0280 | 1 | 366 | 0.0027 | -96 | c.132 others(111): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OTUD7A_chr15_31470398_31875673 | 31511097 | TGTATATC others(89): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG04204.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0026a0002c0003t0069 | a0001c0002t0026g0014a0002c0003t0069g0165 | 2 | 244 | 0.0082 | -96 | c.894 others(113): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
PABIR2_chrX_134764566_134802205 | 134788146 | TACGTTAT others(89): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG02896.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0056a0001c0001t0001g0057others(2): Show | 5 | 217 | 0.0230 | -96 | c.435 others(111): Show |
PABIR2 | ENSG00000156504.17 | transcript | ENST00000343004.10 | protein_coding | 6/9 | chrX | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 163269849 | GAAAGAAA others(89): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01981.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0052a0001c0001t0001g0093a0001c0001t0002g0029others(4): Show | 7 | 130 | 0.0539 | -96 | c.614 others(115): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACRG_chr6_162722974_163320500 | 163269853 | GAAAGAGA others(89): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0042a0001c0001t0003g0049 | 2 | 130 | 0.0154 | -96 | c.614 others(115): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PACS2_chr14_105309748_105403147 | 105330249 | GAGAAGCC others(89): Show |
G | intron_variant | MODIFIER | HG03130.hp2 HG03579.hp1 |
a0002 | a0002c0002a0002c0005 | a0002c0002t0030a0002c0005t0020 | a0002c0002t0030g0179a0002c0005t0020g0178 | 2 | 210 | 0.0095 | -96 | c.119 others(115): Show |
PACS2 | ENSG00000179364.15 | transcript | ENST00000447393.6 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAGE1_chrX_49682447_49700984 | 49690016 | TGTATATA others(89): Show |
T | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 322 | 0.0031 | -96 | c.293 others(111): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 4/5 | chrX | TogoVar | ||||||
PAH_chr12_102831889_102922244 | 102868088 | GTATATAT others(89): Show |
G | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 312 | 0.0032 | -96 | c.442 others(113): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300841 | TTTTCTTT others(89): Show |
T | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 284 | 0.0035 | -96 | c.-27 others(115): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PARP6_chr15_72236181_72277554 | 72275860 | AGTGTCAT others(89): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 396 | 0.0025 | -96 | c.-40 others(107): Show |
PARP6 | ENSG00000137817.17 | transcript | ENST00000569795.6 | protein_coding | 3307 | chr15 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45918736 | AGGAAGAA others(89): Show |
A | intron_variant | MODIFIER | HG03209.hp2 NA18522.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0195a0001c0001t0010g0196a0001c0001t0010g0197 | 3 | 292 | 0.0103 | -96 | c.717 others(113): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31928903 | ATAAGAGG others(89): Show |
A | intron_variant | MODIFIER | HG00099.hp2 | a0035 | a0035c0043 | a0035c0043t0002 | a0035c0043t0002g0089 | 1 | 216 | 0.0046 | -96 | c.477 others(115): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41402264 | ATATATAT others(89): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG02976.hp2 HG03041.hp1 others(2): Show |
a0002a0004a0011 | a0002c0002a0002c0016a0004c0003others(1): Show | a0002c0002t0001a0002c0016t0001a0004c0003t0001others(1): Show | a0002c0002t0001g0168a0002c0002t0001g0192a0002c0016t0001g0101others(2): Show | 5 | 206 | 0.0243 | -96 | c.844 others(117): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PIGQ_chr16_564968_589109 | 579427 | CCTAGAGG others(89): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00639.hp1 others(43): Show |
a0001a0004a0009 | a0001c0002a0004c0005a0009c0021 | a0001c0002t0002a0001c0002t0015a0004c0005t0002others(1): Show | a0001c0002t0002g0001a0001c0002t0002g0002a0001c0002t0002g0003others(33): Show | 46 | 408 | 0.1128 | -96 | c.133 others(113): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PIGQ_chr16_564968_589109 | 579447 | AGAGACTA others(89): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02451.hp2 others(13): Show |
a0001a0003a0008 | a0001c0002a0001c0004a0001c0008others(2): Show | a0001c0002t0003a0001c0002t0006a0001c0004t0004others(4): Show | a0001c0002t0003g0162a0001c0002t0003g0232a0001c0002t0006g0181others(13): Show | 16 | 408 | 0.0392 | -96 | c.133 others(113): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PIGQ_chr16_564968_589109 | 579574 | TGAGGTGC others(89): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG02129.hp1 HG02280.hp2 others(9): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0046a0003c0003t0003g0047a0003c0003t0003g0056others(9): Show | 12 | 408 | 0.0294 | -96 | c.133 others(113): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PINX1_chr8_10759961_10844875 | 10833578 | AGACGACT others(89): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01081.hp1 others(25): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003a0001c0003t0006 | a0001c0003t0001g0122a0001c0003t0003g0003a0001c0003t0003g0007others(21): Show | 28 | 352 | 0.0796 | -96 | c.130 others(111): Show |
PINX1 | ENSG00000254093.9 | transcript | ENST00000314787.8 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
PLCB4_chr20_9064087_9485808 | 9188476 | TAGTGACA others(89): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 140 | 0.0071 | -96 | c.-78 others(115): Show |
PLCB4 | ENSG00000101333.19 | transcript | ENST00000378473.9 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PLD1_chr3_171595404_171815483 | 171780220 | GTTTGGAT others(89): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0009 | a0009c0012 | a0009c0012t0004 | a0009c0012t0004g0287 | 1 | 294 | 0.0034 | -96 | c.-32 others(115): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242393418 | GTATATAT others(89): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0118 | 1 | 188 | 0.0053 | -96 | c.190 others(115): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
PLIN2_chr9_19110761_19132492 | 19122486 | TACCATAT others(89): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(192): Show |
a0001a0004a0007others(1): Show | a0001c0001a0004c0012a0007c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0098others(65): Show | 195 | 448 | 0.4353 | -96 | c.309 others(112): Show |
PLIN2 | ENSG00000147872.10 | transcript | ENST00000276914.7 | protein_coding | 4/7 | chr9 | TogoVar | ||||||
PLIN5_chr19_4517531_4540224 | 4525837 | AGGACAGG others(89): Show |
A | splice_region_variant others(1): Show |
LOW | HG02055.hp1 HG02257.hp1 HG02258.hp2 others(12): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0003a0001c0001t0009a0001c0014t0003 | a0001c0001t0003g0024a0001c0001t0003g0025a0001c0001t0003g0066others(8): Show | 15 | 412 | 0.0364 | -96 | c.521 others(109): Show |
PLIN5 | ENSG00000214456.8 | transcript | ENST00000381848.7 | protein_coding | 5/7 | chr19 | TogoVar | ||||||
PLPP2_chr19_276043_296403 | 282325 | GGACGTGT others(89): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 | 1 | 354 | 0.0028 | -96 | c.541 others(110): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 4/5 | chr19 | TogoVar |