view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUC5B_chr11_1218066_1267172 | 1247131 | AGTGCTGA others(79): Show |
A | frameshift_variant | HIGH | HG03130.hp1 | a0107 | a0107c0113 | a0107c0113t0003 | a0107c0113t0003g0173 | 1 | 350 | 0.0029 | -86 | c.102 others(97): Show |
p.Val others(6): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 10310/17911 | 10252/17289 | 3418/5762 | chr11 | TogoVar | |||
MUC5B_chr11_1218066_1267172 | 1248802 | AGTGCTGA others(79): Show |
A | frameshift_variant | HIGH | HG03130.hp1 | a0107 | a0107c0113 | a0107c0113t0003 | a0107c0113t0003g0173 | 1 | 350 | 0.0029 | -86 | c.119 others(97): Show |
p.Val others(6): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 11981/17911 | 11923/17289 | 3975/5762 | chr11 | TogoVar | |||
MUSK_chr9_110663791_110811558 | 110683885 | TTGTCAGA others(79): Show |
T | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 326 | 0.0031 | -86 | c.206 others(103): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 2/14 | chr9 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110690189 | TATATATA others(79): Show |
T | intron_variant | MODIFIER | HG00621.hp2 | a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0307 | 1 | 326 | 0.0031 | -86 | c.358 others(103): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1360941 | CGCATGCA others(79): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | -86 | c.-25 others(97): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2387 | chr1 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4663461 | CCCTCCCC others(79): Show |
C | intron_variant | MODIFIER | NA18954.hp1 NA18977.hp1 NA18982.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0019 a0002c0002t0002g0137 |
3 | 410 | 0.0073 | -86 | c.287 others(103): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1940513 | GTAGCAGG others(79): Show |
G | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0023 | a0001c0023t0003 | a0001c0023t0003g0057 | 1 | 104 | 0.0096 | -86 | c.505 others(103): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 9/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2189765 | CGCATTCT others(79): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0074 | 1 | 104 | 0.0096 | -86 | c.-42 others(107): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64205257 | TGTGTGGC others(79): Show |
T | intron_variant | MODIFIER | HG01256.hp2 HG01346.hp1 HG01361.hp1 others(1): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0006t0002a0001c0006t0009 | a0001c0002t0002g0043 a0001c0006t0002g0083 a0001c0006t0002g0128 others(1): Show |
4 | 223 | 0.0179 | -86 | c.149 others(101): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NAPB_chr20_23369522_23426488 | 23413407 | GAATATTT others(79): Show |
G | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0096 | 1 | 394 | 0.0025 | -86 | c.98+ others(101): Show |
NAPB | ENSG00000125814.17 | transcript | ENST00000377026.4 | protein_coding | 1/10 | chr20 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16127228 | CATGTATG others(79): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG02559.hp1 HG02965.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(5): Show |
8 | 282 | 0.0284 | -86 | c.151 others(105): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 14/45 | chr17 | TogoVar | |||||||
NDST4_chr4_114822763_115118620 | 115096129 | AAACAAAA others(79): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(147): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 others(147): Show |
150 | 190 | 0.7895 | -86 | c.-24 others(107): Show |
NDST4 | ENSG00000138653.10 | transcript | ENST00000264363.7 | protein_coding | 1/13 | chr4 | TogoVar | |||||||
NELL1_chr11_20664586_21580686 | 20699091 | TCTGTAGC others(79): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0070 | 1 | 88 | 0.0114 | -86 | c.184 others(105): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NELL1_chr11_20664586_21580686 | 20975630 | CATATATG others(79): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01884.hp2 HG02258.hp2 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0004a0001c0005a0001c0006others(7): Show | a0001c0004t0001a0001c0005t0001a0001c0006t0007others(7): Show | a0001c0004t0001g0080 a0001c0005t0001g0013 a0001c0006t0007g0014 others(8): Show |
11 | 88 | 0.1250 | -86 | c.130 others(107): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241807564 | ACCTTCCC others(79): Show |
A | upstream_gene_variant | MODIFIER | NA18612.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0041 |
2 | 319 | 0.0063 | -86 | c.-17 others(97): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1628 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807567 | TTCCCTCC others(79): Show |
T | upstream_gene_variant | MODIFIER | NA18982.hp1 | a0012 | a0012c0011 | a0012c0011t0001 | a0012c0011t0001g0001 | 1 | 319 | 0.0031 | -86 | c.-17 others(97): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1625 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807595 | TGCAGGCC others(79): Show |
T | upstream_gene_variant | MODIFIER | HG03041.hp1 NA18945.hp1 NA18959.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0002t0001g0122 others(2): Show |
5 | 319 | 0.0157 | -86 | c.-16 others(97): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1597 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807845 | ACCCTCCC others(79): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG03130.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0030 others(5): Show |
8 | 319 | 0.0251 | -86 | c.-14 others(97): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1347 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807876 | TGCAGGCC others(79): Show |
T | upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0154 | 1 | 319 | 0.0031 | -86 | c.-14 others(97): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1316 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807887 | TTCCCTCC others(79): Show |
T | upstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 319 | 0.0031 | -86 | c.-13 others(97): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1305 | chr2 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571143 | GTCTGGCT others(79): Show |
G | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | -86 | c.*27 others(97): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1649 | chr16 | TogoVar | |||||||
NKAIN2_chr6_123798865_124830640 | 123976262 | TATGTTTC others(79): Show |
T | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 66 | 0.0152 | -86 | c.54+ others(105): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149008 | CCACACCC others(79): Show |
C | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 294 | 0.0034 | -86 | c.901 others(101): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
NRIP3_chr11_8975576_9009001 | 8978630 | GGGTCAGC others(79): Show |
G | downstream_gene_variant | MODIFIER | HG00673.hp2 HG01192.hp1 HG02083.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0046a0001c0002t0003others(4): Show | a0001c0001t0003g0030 a0001c0001t0003g0259 a0001c0001t0046g0273 others(6): Show |
9 | 406 | 0.0222 | -86 | c.*48 others(97): Show |
NRIP3 | ENSG00000175352.12 | transcript | ENST00000309166.8 | protein_coding | 1945 | chr11 | TogoVar | |||||||
NSMCE2_chr8_125086860_125372120 | 125272736 | CACACATA others(79): Show |
C | intron_variant | MODIFIER | NA18978.hp2 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0165 |
2 | 244 | 0.0082 | -86 | c.419 others(105): Show |
NSMCE2 | ENSG00000156831.8 | transcript | ENST00000287437.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NSMF_chr9_137442570_137464334 | 137452056 | AACCCCAG others(79): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 2 | 414 | 0.0048 | -86 | c.123 others(103): Show |
NSMF | ENSG00000165802.23 | transcript | ENST00000371475.9 | protein_coding | 12/15 | chr9 | TogoVar | |||||||
NUP155_chr5_37283137_37376106 | 37369552 | TCTTGTTT others(79): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0034 | 1 | 300 | 0.0033 | -86 | c.157 others(103): Show |
NUP155 | ENSG00000113569.16 | transcript | ENST00000231498.8 | protein_coding | 1/34 | chr5 | TogoVar | |||||||
NUTM2E_chr10_79821739_79855878 | 79826225 | GGCGGACG others(79): Show |
G | upstream_gene_variant | MODIFIER | HG02622.hp2 HG03225.hp1 NA21309.hp1 |
a0008a0019 | a0008c0054a0019c0021 | a0008c0054t0002a0019c0021t0002a0019c0021t0039 | a0008c0054t0002g0111 a0019c0021t0002g0112 a0019c0021t0039g0113 |
3 | 412 | 0.0073 | -86 | c.-38 others(97): Show |
NUTM2E | ENSG00000228570.8 | transcript | ENST00000429984.5 | protein_coding | 513 | chr10 | TogoVar | |||||||
NXN_chr17_794310_984776 | 893567 | CGGAAGCC others(79): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007 | 1 | 242 | 0.0041 | -86 | c.361 others(105): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 893844 | TCTCAACT others(79): Show |
T | intron_variant | MODIFIER | HG00673.hp2 NA18943.hp1 NA18951.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0107 a0001c0001t0002g0095 a0001c0001t0002g0188 others(1): Show |
4 | 242 | 0.0165 | -86 | c.361 others(105): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133499773 | TATATATA others(79): Show |
T | intron_variant | MODIFIER | HG03209.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0006 a0001c0001t0008g0004 |
2 | 68 | 0.0294 | -86 | c.61+ others(103): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OR10H4_chr19_15944008_15954958 | 15950558 | TATACACA others(79): Show |
T | downstream_gene_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 404 | 0.0025 | -86 | c.*60 others(95): Show |
OR10H4 | ENSG00000176231.2 | transcript | ENST00000322107.1 | protein_coding | 601 | chr19 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31812732 | AAGAAAGA others(79): Show |
A | intron_variant | MODIFIER | HG02976.hp1 HG03130.hp1 HG03139.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0025a0004c0034 | a0001c0001t0001a0001c0001t0002a0001c0025t0002others(1): Show | a0001c0001t0001g0088 a0001c0001t0001g0152 a0001c0001t0002g0020 others(2): Show |
5 | 186 | 0.0269 | -86 | c.729 others(105): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | |||||||
PALMD_chr1_99641113_99699535 | 99683003 | CTCCAAAA others(79): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp2 HG02809.hp2 others(8): Show |
a0002a0003 | a0002c0003a0002c0008a0003c0004 | a0002c0003t0001a0002c0008t0001a0003c0004t0001others(1): Show | a0002c0003t0001g0229 a0002c0003t0001g0352 a0002c0003t0001g0353 others(6): Show |
11 | 380 | 0.0290 | -86 | c.252 others(103): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
PAPPA_chr9_116148791_116407321 | 116289135 | TATATATA others(79): Show |
T | intron_variant | MODIFIER | NA18972.hp1 NA18979.hp2 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0002a0002c0004t0057 | a0002c0003t0002g0058 a0002c0004t0057g0045 |
2 | 234 | 0.0086 | -86 | c.295 others(107): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAXBP1_chr21_32728899_32776755 | 32771887 | AGAGAGAG others(79): Show |
A | upstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 360 | 0.0028 | -86 | c.-30 others(95): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 133 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45798830 | GTAGAGAG others(79): Show |
G | intron_variant | MODIFIER | HG01891.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 a0001c0001t0002g0218 |
2 | 292 | 0.0069 | -86 | c.-12 others(107): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDE4DIP_chr1_148839428_149038016 | 149023753 | CATATATA others(79): Show |
C | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0013 | a0001c0013t0009 | a0001c0013t0009g0022 | 1 | 24 | 0.0417 | -86 | c.628 others(103): Show |
PDE4DIP | ENSG00000178104.22 | transcript | ENST00000695795.1 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31849932 | ACACATAT others(79): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02572.hp2 HG03130.hp2 others(1): Show |
a0001a0006a0024 | a0001c0001a0001c0056a0006c0015others(1): Show | a0001c0001t0008a0001c0056t0001a0006c0015t0040others(1): Show | a0001c0001t0008g0068 a0001c0056t0001g0053 a0006c0015t0040g0213 others(1): Show |
4 | 216 | 0.0185 | -86 | c.476 others(105): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | chr5 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 977754 | CCCACCAA others(79): Show |
C | intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0186 | 1 | 408 | 0.0025 | -86 | c.214 others(105): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PI4K2A_chr10_97635671_97681434 | 97678880 | GGTGTGTG others(79): Show |
G | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0327 | 1 | 350 | 0.0029 | -86 | c.*51 others(97): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2447 | chr10 | TogoVar | |||||||
PICK1_chr22_38052404_38080701 | 38065739 | CTCTCCTG others(79): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 428 | 0.0023 | -86 | c.282 others(101): Show |
PICK1 | ENSG00000100151.16 | transcript | ENST00000356976.8 | protein_coding | 4/12 | chr22 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229139029 | AAGAAAGA others(79): Show |
A | intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 256 | 0.0039 | -86 | c.177 others(105): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 571143 | GTCTGGCT others(79): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0331 | 1 | 408 | 0.0025 | -86 | c.-10 others(103): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6556578 | CCTTAAAG others(79): Show |
C | upstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0003 | a0001c0003t0075 | a0001c0003t0075g0216 | 1 | 218 | 0.0046 | -86 | c.-25 others(95): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 24 | chr17 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401993 | CGGCTCCA others(79): Show |
C | intron_variant | MODIFIER | HG02148.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0015 a0001c0011t0001g0001 |
2 | 216 | 0.0093 | -86 | c.173 others(104): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8570525 | TCAGCTGA others(79): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp2 HG01081.hp2 others(32): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0092 others(32): Show |
35 | 106 | 0.3302 | -86 | c.247 others(105): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 287442 | CACTATAT others(79): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02559.hp2 others(7): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0010others(3): Show | a0001c0001t0015a0001c0001t0017a0001c0001t0114others(5): Show | a0001c0001t0015g0073 a0001c0001t0015g0074 a0001c0001t0017g0007 others(6): Show |
10 | 176 | 0.0568 | -86 | c.128 others(103): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD3_chr5_41301952_41515601 | 41411875 | CATATATA others(79): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(119): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0002g0034 others(119): Show |
122 | 244 | 0.5000 | -86 | c.104 others(105): Show |
PLCXD3 | ENSG00000182836.11 | transcript | ENST00000377801.8 | protein_coding | 1/2 | chr5 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242393226 | GTATATAT others(79): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG02523.hp1 NA18950.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0035a0001c0002t0013a0002c0003t0005 | a0001c0001t0035g0066 a0001c0002t0013g0172 a0002c0003t0005g0051 |
3 | 188 | 0.0160 | -86 | c.190 others(105): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar |