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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NEK5_chr13_52028611_52134073 | 52123839 | G | GAACAAGT others(2762): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0024 | 1 | 324 | 0.0031 | 2769 | c.117 others(2786): Show |
NEK5 | ENSG00000197168.14 | transcript | ENST00000684899.1 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
PARD3B_chr2_204540475_205625162 | 205345835 | T | TATCTTTG others(2762): Show |
intron_variant | MODIFIER | HG02976.hp2 NA19030.hp2 |
a0003a0004 | a0003c0010a0004c0011 | a0003c0010t0019a0004c0011t0003 | a0003c0010t0019g0030 a0004c0011t0003g0043 |
2 | 39 | 0.0513 | 2769 | c.263 others(2790): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | chr2 | TogoVar | |||||||
PARD3B_chr2_204540475_205625162 | 205345835 | T | TATCTTTG others(2762): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0010 | a0010c0025 | a0010c0025t0022 | a0010c0025t0022g0009 | 1 | 38 | 0.0263 | 2769 | c.263 others(2790): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | chr2 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 458540 | C | CCACAGGG others(2762): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0003 | 1 | 269 | 0.0037 | 2769 | c.715 others(2786): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(2762): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0156 | 1 | 207 | 0.0048 | 2769 | c.715 others(2786): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(2762): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 207 | 0.0048 | 2769 | c.715 others(2786): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(2762): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0007 | a0007c0016 | a0007c0016t0002 | a0007c0016t0002g0114 | 1 | 207 | 0.0048 | 2769 | c.715 others(2786): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2762): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 18 | 0.0556 | 2769 | c.372 others(2784): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2762): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 18 | 0.0556 | 2769 | c.372 others(2784): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2762): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315 | 1 | 18 | 0.0556 | 2769 | c.372 others(2784): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2762): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 18 | 0.0556 | 2769 | c.372 others(2784): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2762): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0007 | 1 | 18 | 0.0556 | 2769 | c.372 others(2784): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2762): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 18 | 0.0556 | 2769 | c.372 others(2784): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2762): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 18 | 0.0556 | 2769 | c.372 others(2784): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2762): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0118 | 1 | 18 | 0.0556 | 2769 | c.372 others(2784): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2762): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 18 | 0.0556 | 2769 | c.372 others(2784): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPATA3_chr2_230991121_231013040 | 231005545 | C | CATCACCA others(2762): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0034 | 2 | 170 | 0.0118 | 2769 | c.*11 others(2788): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2763): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 197 | 0.0051 | 2770 | c.409 others(2787): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2763): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 197 | 0.0051 | 2770 | c.409 others(2787): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2763): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 197 | 0.0051 | 2770 | c.409 others(2787): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
ACSL4_chrX_109636335_109738257 | 109727319 | T | TAAAGATC others(2763): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 220 | 0.0045 | 2770 | c.-66 others(2787): Show |
ACSL4 | ENSG00000068366.21 | transcript | ENST00000672401.1 | protein_coding | 1/15 | chrX | TogoVar | |||||||
NEK5_chr13_52028611_52134073 | 52123839 | G | GAACAAGT others(2763): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0020 | 1 | 324 | 0.0031 | 2770 | c.117 others(2787): Show |
NEK5 | ENSG00000197168.14 | transcript | ENST00000684899.1 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61310158 | T | TGAAAATC others(2763): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0040 | 1 | 154 | 0.0065 | 2770 | c.626 others(2789): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205345835 | T | TATCTTTG others(2763): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0004 | a0004c0012 | a0004c0012t0003 | a0004c0012t0003g0004 | 1 | 38 | 0.0263 | 2770 | c.263 others(2791): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | chr2 | TogoVar | |||||||
PARD3B_chr2_204540475_205625162 | 205345835 | T | TATCTTTG others(2763): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03041.hp2 HG03471.hp1 others(2): Show |
a0001a0002a0003 | a0001c0003a0002c0004a0002c0008others(2): Show | a0001c0003t0001a0002c0004t0021a0002c0008t0004others(2): Show | a0001c0003t0001g0031 a0002c0004t0021g0051 a0002c0008t0004g0028 others(2): Show |
5 | 42 | 0.1190 | 2770 | c.263 others(2791): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | chr2 | TogoVar | |||||||
PARD3B_chr2_204540475_205625162 | 205345835 | T | TATCTTTG others(2763): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 NA20300.hp2 |
a0002a0003a0004 | a0002c0016a0003c0009a0004c0020 | a0002c0016t0002a0003c0009t0002a0004c0020t0020 | a0002c0016t0002g0037 a0003c0009t0002g0034 a0004c0020t0020g0032 |
3 | 40 | 0.0750 | 2770 | c.263 others(2791): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | chr2 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(2763): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0069 | 1 | 82 | 0.0122 | 2770 | c.147 others(2787): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2763): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0117 | 1 | 274 | 0.0036 | 2770 | c.130 others(2787): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2763): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 18 | 0.0556 | 2770 | c.372 others(2785): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2763): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 18 | 0.0556 | 2770 | c.372 others(2785): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2763): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 18 | 0.0556 | 2770 | c.372 others(2785): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2763): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01192.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 a0001c0001t0001g0275 a0001c0001t0001g0294 others(1): Show |
4 | 21 | 0.1905 | 2770 | c.372 others(2785): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2764): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 197 | 0.0051 | 2771 | c.409 others(2788): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2764): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 197 | 0.0051 | 2771 | c.409 others(2788): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2764): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02486.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0033 a0001c0001t0004g0037 |
4 | 200 | 0.0200 | 2771 | c.409 others(2788): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2764): Show |
intron_variant | MODIFIER | HG01168.hp2 HG02523.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 a0001c0001t0001g0107 a0001c0001t0001g0123 |
3 | 199 | 0.0151 | 2771 | c.409 others(2788): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2764): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 197 | 0.0051 | 2771 | c.409 others(2788): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2764): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 197 | 0.0051 | 2771 | c.409 others(2788): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2764): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 197 | 0.0051 | 2771 | c.409 others(2788): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633736 | G | GCTTCAGT others(2764): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0052 | 1 | 371 | 0.0027 | 2771 | c.96+ others(2786): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
ARFRP1_chr20_63693647_63712976 | 63693732 | T | TCCACCTC others(2764): Show |
downstream_gene_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 99 | 0.0101 | 2771 | c.*67 others(2782): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4914 | chr20 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2764): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0148 | 1 | 25 | 0.0400 | 2771 | c.206 others(2792): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2764): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0078 | 1 | 25 | 0.0400 | 2771 | c.206 others(2792): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2764): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0008 | a0008c0024 | a0008c0024t0005 | a0008c0024t0005g0084 | 1 | 25 | 0.0400 | 2771 | c.206 others(2792): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2764): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0129 a0002c0002t0007g0130 |
2 | 26 | 0.0769 | 2771 | c.206 others(2792): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED16_chr19_862963_898187 | 871891 | C | CGGGGAGA others(2764): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 6 | 0.1667 | 2771 | c.209 others(2786): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
NEK5_chr13_52028611_52134073 | 52123839 | G | GAACAAGT others(2764): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0023 | 1 | 324 | 0.0031 | 2771 | c.117 others(2788): Show |
NEK5 | ENSG00000197168.14 | transcript | ENST00000684899.1 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
NEK5_chr13_52028611_52134073 | 52123839 | G | GAACAAGT others(2764): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0021 | 1 | 324 | 0.0031 | 2771 | c.117 others(2788): Show |
NEK5 | ENSG00000197168.14 | transcript | ENST00000684899.1 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
PARD3B_chr2_204540475_205625162 | 205345835 | T | TATCTTTG others(2764): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 38 | 0.0263 | 2771 | c.263 others(2792): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | chr2 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2764): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0033 | a0033c0024 | a0033c0024t0002 | a0033c0024t0002g0117 | 1 | 34 | 0.0294 | 2771 | c.299 others(2786): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar |