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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNMB2_chr3_178531436_178849429 | 178757996 | T | TCCAAGAG others(385): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0016 | 1 | 87 | 0.0115 | 392 | c.-67 others(411): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196437080 | T | TATAAATA others(385): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 |
2 | 51 | 0.0392 | 392 | c.639 others(409): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997458 | G | GGGGCGGG others(385): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0272 | 1 | 357 | 0.0028 | 392 | c.-20 others(403): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 212 | chr6 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124506973 | C | CAGGATTT others(385): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 229 | 0.0044 | 392 | c.624 others(409): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507157 | G | GGGGGGGT others(385): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 247 | 0.0040 | 392 | c.624 others(409): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859602 | A | AGTGGTGT others(385): Show |
intron_variant | MODIFIER | HG03927.hp2 HG04204.hp1 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0010t0001 | a0001c0002t0001g0095 a0001c0010t0001g0271 |
2 | 292 | 0.0068 | 392 | c.153 others(411): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LRRC14_chr8_144512992_144530172 | 144513800 | T | TGAGGAGG others(385): Show |
upstream_gene_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 220 | 0.0045 | 392 | c.-43 others(403): Show |
LRRC14 | ENSG00000160959.8 | transcript | ENST00000292524.6 | protein_coding | 4191 | chr8 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1992120 | C | CGAGCACC others(385): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01975.hp2 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0116 a0001c0004t0003g0118 |
2 | 251 | 0.0080 | 392 | c.141 others(411): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113333828 | T | TACATATA others(385): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0005 | a0005c0032 | a0005c0032t0046 | a0005c0032t0046g0006 | 1 | 109 | 0.0092 | 392 | c.627 others(409): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | |||||||
METRNL_chr17_83074609_83100122 | 83090386 | C | CACCCCCC others(385): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 294 | 0.0034 | 392 | c.557 others(409): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
MFSD3_chr8_144504070_144516213 | 144513800 | T | TGAGGAGG others(385): Show |
downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 210 | 0.0048 | 392 | c.*26 others(403): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 2588 | chr8 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237542803 | G | GGGCACGG others(385): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0018 | a0018c0018 | a0018c0018t0001 | a0018c0018t0001g0029 a0018c0018t0001g0030 |
2 | 205 | 0.0098 | 392 | c.153 others(409): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MSH4_chr1_75791882_75918242 | 75906518 | T | TTGTATAT others(385): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 38 | 0.0263 | 392 | c.262 others(411): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | chr1 | TogoVar | |||||||
MSH4_chr1_75791882_75918242 | 75906518 | T | TTGTATAT others(385): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 38 | 0.0263 | 392 | c.262 others(411): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | chr1 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767560 | G | GAGGAGCC others(385): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0215 | 1 | 362 | 0.0028 | 392 | c.159 others(407): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | chr16 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767619 | G | GGCGTGGA others(385): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 218 | 0.0046 | 392 | c.159 others(409): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(385): Show |
upstream_gene_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 196 | 0.0051 | 392 | c.-28 others(403): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(385): Show |
upstream_gene_variant | MODIFIER | NA18974.hp1 NA18994.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 2 | 197 | 0.0102 | 392 | c.-28 others(403): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56725546 | T | TATATTGT others(385): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 157 | 0.0064 | 392 | c.-38 others(403): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 3696 | chrX | TogoVar | |||||||
NME4_chr16_392199_405754 | 397703 | G | GGGGGTGT others(385): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 311 | 0.0032 | 392 | c.91+ others(405): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(385): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 157 | 0.0064 | 392 | c.91+ others(405): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(385): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 157 | 0.0064 | 392 | c.91+ others(405): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(385): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 157 | 0.0064 | 392 | c.91+ others(405): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(385): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 | 1 | 157 | 0.0064 | 392 | c.91+ others(405): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(385): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 157 | 0.0064 | 392 | c.91+ others(405): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397709 | T | TGGGGGGG others(385): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 299 | 0.0033 | 392 | c.91+ others(405): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
OR11H4_chr14_20234286_20249349 | 20237636 | T | TATATATA others(385): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 2 | 436 | 0.0046 | 392 | c.-17 others(403): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1649 | chr14 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950450 | C | CACGCACA others(385): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG03098.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0034 a0001c0001t0003g0184 |
3 | 337 | 0.0089 | 392 | c.-29 others(403): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2789 | chr16 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950450 | C | CACGCACA others(385): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 HG02965.hp1 HG03225.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0003a0001c0003t0003 | a0001c0001t0003g0177 a0001c0002t0003g0187 a0001c0003t0003g0176 |
3 | 337 | 0.0089 | 392 | c.-29 others(403): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2789 | chr16 | TogoVar | |||||||
PALD1_chr10_70473767_70573450 | 70554970 | T | TCCTCCCC others(385): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 68 | 0.0147 | 392 | c.226 others(411): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344665 | A | AGGGGATT others(385): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 HG01952.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0042 a0002c0002t0001g0046 a0002c0002t0001g0195 others(2): Show |
7 | 343 | 0.0204 | 392 | c.4-1 others(405): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344665 | A | AGGGGATT others(385): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0202 | 1 | 337 | 0.0030 | 392 | c.4-1 others(405): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PATL1_chr11_59631716_59674037 | 59645321 | A | AGGGCAGA others(385): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0043 |
2 | 4 | 0.5000 | 392 | c.189 others(411): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 15/18 | chr11 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45910104 | C | CCACCCAC others(385): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 a0001c0001t0002g0252 |
2 | 227 | 0.0088 | 392 | c.471 others(407): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 309579 | C | CCCAGTGA others(385): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 199 | 0.0050 | 392 | c.368 others(409): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 309607 | C | CCCAGTGA others(385): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 232 | 0.0043 | 392 | c.368 others(409): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 309755 | T | TGGCCGCC others(385): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 335 | 0.0030 | 392 | c.368 others(409): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(385): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0282 | 1 | 118 | 0.0085 | 392 | c.*35 others(403): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(385): Show |
downstream_gene_variant | MODIFIER | NA18973.hp2 NA18979.hp1 NA19009.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 others(1): Show |
4 | 121 | 0.0331 | 392 | c.*35 others(403): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(385): Show |
downstream_gene_variant | MODIFIER | NA18994.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0249 |
2 | 119 | 0.0168 | 392 | c.*35 others(403): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59434007 | T | TTCTTTAG others(385): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0009 | 1 | 20 | 0.0500 | 392 | c.456 others(413): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PIMREG_chr17_6439455_6456469 | 6455724 | G | GGAGGGGA others(385): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 29 | 0.0345 | 392 | c.*53 others(403): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 4256 | chr17 | TogoVar | |||||||
PIMREG_chr17_6439455_6456469 | 6455724 | G | GGAGGGGA others(385): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0061 | 1 | 29 | 0.0345 | 392 | c.*53 others(403): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 4256 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6455724 | G | GGAGGGGA others(385): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0042 | 1 | 18 | 0.0556 | 392 | c.262 others(407): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 19/19 | chr17 | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 297913 | A | ACATGGGG others(385): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02723.hp2 HG02886.hp2 |
a0001a0006 | a0001c0003a0006c0011 | a0001c0003t0027a0006c0011t0102 | a0001c0003t0027g0015 a0001c0003t0027g0016 a0006c0011t0102g0017 |
3 | 163 | 0.0184 | 392 | c.734 others(409): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 298540 | T | TCTGTCTA others(385): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0055 | a0001c0003t0055g0007 | 1 | 172 | 0.0058 | 392 | c.734 others(407): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 298746 | A | ACATGGGG others(385): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0101 | a0001c0003t0101g0109 | 1 | 174 | 0.0057 | 392 | c.734 others(407): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLPP2_chr19_276043_296403 | 291612 | G | GGGGGGGA others(385): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 | 1 | 113 | 0.0088 | 392 | c.-27 others(401): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 210 | chr19 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2123747 | C | CGGCTGTA others(385): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0072 | 1 | 192 | 0.0052 | 392 | c.335 others(411): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 51449643 | A | AACAGCAT others(385): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 20 | 0.0500 | 392 | c.479 others(411): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |