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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL21A1_chr6_56051590_56252580 | 56098080 | A | AATAAATA others(637): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0018 | 1 | 264 | 0.0038 | 644 | c.181 others(663): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(637): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02970.hp1 |
a0001 | a0001c0071a0001c0072 | a0001c0071t0019a0001c0072t0003 | a0001c0071t0019g0010 a0001c0072t0003g0009 |
2 | 272 | 0.0074 | 644 | c.109 others(663): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978270 | T | TTTTATAT others(637): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 94 | 0.0106 | 644 | c.-2+ others(661): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89587785 | C | CCGTGTTA others(637): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 348 | 0.0029 | 644 | c.927 others(659): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CXorf51A_chrX_146809106_146819744 | 146812300 | C | CATATATG others(637): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 264 | 0.0038 | 644 | c.*19 others(655): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1805 | chrX | TogoVar | |||||||
CXorf51B_chrX_146804771_146815411 | 146812300 | C | CATATATG others(637): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 272 | 0.0037 | 644 | c.*19 others(655): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1890 | chrX | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(637): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 216 | 0.0046 | 644 | c.923 others(663): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(637): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0154 |
2 | 216 | 0.0093 | 644 | c.923 others(663): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(637): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0030 | 1 | 230 | 0.0044 | 644 | c.724 others(663): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 417631 | G | GGTTCGAA others(637): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0017 | 1 | 88 | 0.0114 | 644 | c.739 others(661): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 417631 | G | GGTTCGAA others(637): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 88 | 0.0114 | 644 | c.739 others(661): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 556162 | A | ACCCCTCC others(637): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0023 | a0001c0023t0003 | a0001c0023t0003g0002 | 1 | 88 | 0.0114 | 644 | c.86- others(661): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
EPHB2_chr1_22705839_22926500 | 22754841 | G | GGAGGTGA others(637): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02004.hp2 HG02155.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(3): Show | a0001c0001t0001g0183 a0001c0001t0002g0222 a0001c0001t0015g0220 others(4): Show |
7 | 248 | 0.0282 | 644 | c.62- others(661): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FAM174C_chr19_1270530_1284228 | 1282342 | G | GGGGGAGG others(637): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 254 | 0.0039 | 644 | c.*35 others(655): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3115 | chr19 | TogoVar | |||||||
FUT7_chr9_137025174_137037088 | 137034298 | A | ACTTGGAG others(637): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 358 | 0.0028 | 644 | c.-23 others(655): Show |
FUT7 | ENSG00000180549.8 | transcript | ENST00000314412.7 | protein_coding | 2211 | chr9 | TogoVar | |||||||
GDF3_chr12_7684784_7700775 | 7688838 | C | CTACTCGG others(637): Show |
downstream_gene_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 468 | 0.0021 | 644 | c.*10 others(655): Show |
GDF3 | ENSG00000184344.4 | transcript | ENST00000329913.4 | protein_coding | 945 | chr12 | TogoVar | |||||||
GDF3_chr12_7684784_7700775 | 7688838 | C | CTACTCGG others(637): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00558.hp2 others(138): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0002a0005c0009t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0011 others(33): Show |
141 | 468 | 0.3013 | 644 | c.*10 others(655): Show |
GDF3 | ENSG00000184344.4 | transcript | ENST00000329913.4 | protein_coding | 945 | chr12 | TogoVar | |||||||
GDF3_chr12_7684784_7700775 | 7688838 | C | CTACTCGG others(637): Show |
downstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 468 | 0.0021 | 644 | c.*10 others(655): Show |
GDF3 | ENSG00000184344.4 | transcript | ENST00000329913.4 | protein_coding | 945 | chr12 | TogoVar | |||||||
GDF3_chr12_7684784_7700775 | 7688838 | C | CTACTCGG others(637): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 468 | 0.0021 | 644 | c.*10 others(655): Show |
GDF3 | ENSG00000184344.4 | transcript | ENST00000329913.4 | protein_coding | 945 | chr12 | TogoVar | |||||||
GDF3_chr12_7684784_7700775 | 7688838 | C | CTACTCGG others(637): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG03225.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 a0002c0002t0001g0052 a0002c0002t0001g0148 |
3 | 468 | 0.0064 | 644 | c.*10 others(655): Show |
GDF3 | ENSG00000184344.4 | transcript | ENST00000329913.4 | protein_coding | 945 | chr12 | TogoVar | |||||||
GDF3_chr12_7684784_7700775 | 7688838 | C | CTACTCGG others(637): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(63): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0011t0001 | a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0010 others(21): Show |
66 | 468 | 0.1410 | 644 | c.*10 others(655): Show |
GDF3 | ENSG00000184344.4 | transcript | ENST00000329913.4 | protein_coding | 945 | chr12 | TogoVar | |||||||
GDF3_chr12_7684784_7700775 | 7688838 | C | CTACTCGG others(637): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(203): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0004a0003c0003others(4): Show | a0001c0001t0001a0001c0004t0001a0003c0003t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(64): Show |
206 | 468 | 0.4402 | 644 | c.*10 others(655): Show |
GDF3 | ENSG00000184344.4 | transcript | ENST00000329913.4 | protein_coding | 945 | chr12 | TogoVar | |||||||
GDF3_chr12_7684784_7700775 | 7688838 | C | CTACTCGG others(637): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0097 | 1 | 468 | 0.0021 | 644 | c.*10 others(655): Show |
GDF3 | ENSG00000184344.4 | transcript | ENST00000329913.4 | protein_coding | 945 | chr12 | TogoVar | |||||||
GDF3_chr12_7684784_7700775 | 7688838 | C | CTACTCGG others(637): Show |
downstream_gene_variant | MODIFIER | NA18941.hp2 NA18943.hp2 NA18945.hp2 others(5): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0028 a0003c0003t0001g0051 a0003c0003t0001g0093 others(2): Show |
8 | 468 | 0.0171 | 644 | c.*10 others(655): Show |
GDF3 | ENSG00000184344.4 | transcript | ENST00000329913.4 | protein_coding | 945 | chr12 | TogoVar | |||||||
GDF3_chr12_7684784_7700775 | 7688838 | C | CTACTCGG others(637): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 NA20805.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0060 a0003c0003t0001g0063 |
2 | 468 | 0.0043 | 644 | c.*10 others(655): Show |
GDF3 | ENSG00000184344.4 | transcript | ENST00000329913.4 | protein_coding | 945 | chr12 | TogoVar | |||||||
GLT6D1_chr9_135618648_135644540 | 135620157 | T | TCTACTCC others(637): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0121 | 1 | 436 | 0.0023 | 644 | c.*39 others(655): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 3490 | chr9 | TogoVar | |||||||
INPP5D_chr2_233055342_233212903 | 233176499 | G | GGATGGAG others(637): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02630.hp1 HG02717.hp2 others(5): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0028 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0002g0265 a0001c0001t0005g0168 a0001c0001t0005g0189 others(5): Show |
8 | 310 | 0.0258 | 644 | c.199 others(661): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 17/26 | chr2 | TogoVar | |||||||
INPP5D_chr2_233055342_233212903 | 233176499 | G | GGATGGAG others(637): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(70): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0039 others(70): Show |
73 | 310 | 0.2355 | 644 | c.199 others(661): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 17/26 | chr2 | TogoVar | |||||||
INPP5D_chr2_233055342_233212903 | 233176499 | G | GGATGGAG others(637): Show |
intron_variant | MODIFIER | HG02280.hp1 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0027 | a0001c0001t0007a0002c0027t0003 | a0001c0001t0007g0241 a0002c0027t0003g0185 |
2 | 310 | 0.0065 | 644 | c.199 others(661): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 17/26 | chr2 | TogoVar | |||||||
INPP5D_chr2_233055342_233212903 | 233176499 | G | GGATGGAG others(637): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 310 | 0.0032 | 644 | c.199 others(661): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 17/26 | chr2 | TogoVar | |||||||
IQCB1_chr3_121764761_121840060 | 121786167 | T | TAAGAAAA others(637): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0156 | 1 | 308 | 0.0033 | 644 | c.127 others(663): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(637): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(102): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0042 a0001c0001t0002g0003 others(44): Show |
105 | 386 | 0.2720 | 644 | c.-46 others(655): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(637): Show |
upstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0009 | 1 | 386 | 0.0026 | 644 | c.-46 others(655): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(637): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0025 | 1 | 386 | 0.0026 | 644 | c.-46 others(655): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(637): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 386 | 0.0026 | 644 | c.-46 others(655): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124610863 | A | AGGGTGAG others(637): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 260 | 0.0039 | 644 | c.717 others(661): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LINGO2_chr9_27932617_29218601 | 28189265 | G | GAGGAAGG others(637): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0054 | 1 | 62 | 0.0161 | 644 | c.-36 others(665): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
LOC102723971_chr9_135609183_135624893 | 135620157 | T | TCTACTCC others(637): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0003 | 1 | 450 | 0.0022 | 644 | c.*12 others(655): Show |
LOC102723971 | ENSG00000236543.3 | transcript | ENST00000430816.3 | protein_coding | 265 | chr9 | TogoVar | |||||||
MBNL3_chrX_132364320_132494038 | 132396705 | T | TATATAGA others(637): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0085 | 1 | 191 | 0.0052 | 644 | c.343 others(661): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2295539 | G | GAGAGAGA others(637): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0024 | a0001c0024t0020 | a0001c0024t0020g0064 | 1 | 104 | 0.0096 | 644 | c.-52 others(665): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 1/24 | chr2 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158667732 | C | CTACTGGG others(637): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0373 | 1 | 378 | 0.0027 | 644 | c.148 others(663): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NKAIN2_chr6_123798865_124830640 | 124687570 | T | TTCCATAT others(637): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 66 | 0.0152 | 644 | c.474 others(663): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | chr6 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528378 | A | ATGGGCAG others(637): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0035 | a0035c0080 | a0035c0080t0014 | a0035c0080t0014g0173 | 1 | 324 | 0.0031 | 644 | c.141 others(661): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(637): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(19): Show |
a0001a0031 | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(11): Show | a0001c0001t0003g0222 a0001c0001t0003g0282 a0001c0001t0003g0304 others(19): Show |
22 | 324 | 0.0679 | 644 | c.140 others(661): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949449 | G | GCGGCCTC others(637): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0242 | 1 | 242 | 0.0041 | 644 | c.360 others(663): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952622 | T | TGGGGGGG others(637): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0140 | 1 | 242 | 0.0041 | 644 | c.360 others(663): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGC others(637): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 242 | 0.0041 | 644 | c.360 others(663): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(637): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 2 | 439 | 0.0046 | 644 | c.-16 others(655): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143981315 | G | GTGATGGT others(637): Show |
intron_variant | MODIFIER | NA19067.hp1 NA19080.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0270 a0002c0002t0002g0271 |
2 | 380 | 0.0053 | 644 | c.255 others(663): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(637): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 436 | 0.0023 | 644 | c.-26 others(655): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar |