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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KSR2_chr12_117448012_117973990 | 117607654 | A | AAGGAGAG others(23): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0006 | a0001c0006t0016 | a0001c0006t0016g0179 | 1 | 196 | 0.0051 | 30 | c.117 others(51): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117611445 | G | GACACACA others(23): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01175.hp2 HG01192.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0001t0035a0001c0001t0045others(12): Show | a0001c0001t0004g0102 a0001c0001t0035g0015 a0001c0001t0045g0017 others(12): Show |
15 | 196 | 0.0765 | 30 | c.117 others(51): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117971094 | C | CAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0008 | a0001c0008t0130 | a0001c0008t0130g0143 | 1 | 196 | 0.0051 | 30 | c.-28 others(41): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 2105 | chr12 | TogoVar | |||||||
KTN1_chr14_55575207_55689579 | 55631341 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG03225.hp1 HG06807.hp1 NA18906.hp2 |
a0001a0010a0012 | a0001c0009a0010c0011a0012c0014 | a0001c0009t0001a0010c0011t0005a0012c0014t0001 | a0001c0009t0001g0084 a0010c0011t0005g0173 a0012c0014t0001g0172 |
3 | 314 | 0.0096 | 30 | c.122 others(49): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 7/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KTN1_chr14_55575207_55689579 | 55631341 | G | GATTGATA others(23): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 314 | 0.0032 | 30 | c.122 others(49): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 7/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KTN1_chr14_55575207_55689579 | 55646460 | T | TTTTCCTT others(23): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01099.hp1 HG01358.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0123 a0001c0001t0001g0149 others(4): Show |
7 | 314 | 0.0223 | 30 | c.217 others(47): Show |
KTN1 | ENSG00000126777.18 | transcript | ENST00000395314.8 | protein_coding | 18/43 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KYNU_chr2_142872664_143060833 | 142977372 | G | GAGATATA others(23): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0166 | a0001c0001t0166g0211 | 1 | 332 | 0.0030 | 30 | c.730 others(47): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KYNU_chr2_142872664_143060833 | 142977372 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG00741.hp2 others(33): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(22): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0048 others(33): Show |
36 | 332 | 0.1084 | 30 | c.730 others(47): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6099585 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02897.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0026 a0002c0002t0001g0053 |
2 | 94 | 0.0213 | 30 | c.120 others(49): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 14/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6118208 | A | AACACACA others(23): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02818.hp1 NA18522.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0005a0002c0002t0001a0002c0006t0001 | a0001c0001t0005g0057 a0001c0001t0005g0088 a0002c0002t0001g0066 others(1): Show |
4 | 94 | 0.0426 | 30 | c.119 others(51): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 14/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6181707 | T | TGACAAGA others(23): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0049 | 1 | 94 | 0.0106 | 30 | c.982 others(47): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 12/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6405603 | A | AGCCCGAG others(23): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG01192.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0002g0003 a0001c0001t0002g0028 a0001c0001t0002g0029 others(14): Show |
17 | 94 | 0.1809 | 30 | c.-91 others(47): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 1/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6405603 | A | AGCCCGAG others(23): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0040 | 1 | 94 | 0.0106 | 30 | c.-91 others(47): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 1/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6405616 | A | ACTAAACA others(23): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02257.hp2 HG02280.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0003t0005a0002c0002t0001others(1): Show | a0001c0001t0002g0027 a0001c0003t0005g0002 a0002c0002t0001g0001 others(2): Show |
5 | 94 | 0.0532 | 30 | c.-91 others(47): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 1/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6405653 | A | ACAGGGGC others(23): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02818.hp2 HG02970.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0002g0052 a0001c0001t0004g0049 a0001c0001t0007g0016 others(3): Show |
6 | 94 | 0.0638 | 30 | c.-91 others(47): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 1/18 | chr18 | TogoVar | |||||||
LACC1_chr13_43874904_43898932 | 43879778 | T | TGAGGCGG others(23): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 | 1 | 456 | 0.0022 | 30 | c.-37 others(39): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 125 | chr13 | TogoVar | |||||||
LACC1_chr13_43874904_43898932 | 43879800 | A | AGGCGGGG others(23): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 456 | 0.0022 | 30 | c.-35 others(39): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 103 | chr13 | TogoVar | |||||||
LACC1_chr13_43874904_43898932 | 43879800 | A | AGGCGGGG others(23): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 456 | 0.0022 | 30 | c.-35 others(39): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 103 | chr13 | TogoVar | |||||||
LACC1_chr13_43874904_43898932 | 43879800 | A | AGGCGGGG others(23): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 NA18956.hp2 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0048 a0001c0003t0005g0091 |
2 | 456 | 0.0044 | 30 | c.-35 others(39): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 103 | chr13 | TogoVar | |||||||
LACC1_chr13_43874904_43898932 | 43879800 | A | AGGCGGGG others(23): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0039 | 1 | 456 | 0.0022 | 30 | c.-35 others(39): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 103 | chr13 | TogoVar | |||||||
LACC1_chr13_43874904_43898932 | 43897797 | G | GTGTATAT others(23): Show |
downstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0086 | 1 | 456 | 0.0022 | 30 | c.*63 others(41): Show |
LACC1 | ENSG00000179630.11 | transcript | ENST00000325686.7 | protein_coding | 3866 | chr13 | TogoVar | |||||||
LAIR1_chr19_54346384_54369931 | 54349406 | G | GTGGATGG others(23): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(123): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(19): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0015 others(48): Show |
126 | 462 | 0.2727 | 30 | c.*58 others(41): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1977 | chr19 | TogoVar | |||||||
LAIR1_chr19_54346384_54369931 | 54349415 | G | GGGAGGAC others(23): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01123.hp2 HG01192.hp2 others(22): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(8): Show | a0001c0001t0001g0005 a0001c0001t0007g0024 a0001c0001t0007g0079 others(17): Show |
25 | 462 | 0.0541 | 30 | c.*58 others(41): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1968 | chr19 | TogoVar | |||||||
LAIR1_chr19_54346384_54369931 | 54349787 | A | ACAGATCC others(23): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0130 | 1 | 462 | 0.0022 | 30 | c.*54 others(41): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1596 | chr19 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129205478 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03195.hp2 NA18747.hp1 |
a0006a0008a0031 | a0006c0066a0008c0005a0031c0060 | a0006c0066t0001a0008c0005t0003a0031c0060t0001 | a0006c0066t0001g0067 a0008c0005t0003g0034 a0031c0060t0001g0044 |
3 | 88 | 0.0341 | 30 | c.178 others(51): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA3_chr18_23684453_23960066 | 23687746 | T | TTGTGTGT others(23): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 NA18522.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0240 a0001c0002t0001g0242 a0001c0002t0001g0243 others(1): Show |
4 | 280 | 0.0143 | 30 | c.-19 others(41): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 1706 | chr18 | TogoVar | |||||||
LAMA3_chr18_23684453_23960066 | 23837570 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0273 | 1 | 280 | 0.0036 | 30 | c.309 others(47): Show |
LAMA3 | ENSG00000053747.17 | transcript | ENST00000313654.14 | protein_coding | 25/74 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LAMA4_chr6_112102931_112259567 | 112190988 | C | CTTTCTTT others(23): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0007 | a0007c0014 | a0007c0014t0002 | a0007c0014t0002g0094 | 1 | 314 | 0.0032 | 30 | c.718 others(45): Show |
LAMA4 | ENSG00000112769.20 | transcript | ENST00000230538.12 | protein_coding | 6/38 | chr6 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62325115 | G | GGATGAGG others(23): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0028 | 1 | 186 | 0.0054 | 30 | c.552 others(47): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 41/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62325115 | G | GGATGAGG others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00642.hp2 others(35): Show |
a0001a0004a0012others(18): Show | a0001c0005a0001c0010a0001c0015others(23): Show | a0001c0005t0001a0001c0010t0001a0001c0010t0002others(25): Show | a0001c0005t0001g0121 a0001c0005t0001g0141 a0001c0005t0001g0161 others(35): Show |
38 | 186 | 0.2043 | 30 | c.552 others(47): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 41/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349698 | G | GTGGGGGT others(23): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0024 | a0024c0054 | a0024c0054t0001 | a0024c0054t0001g0059 | 1 | 186 | 0.0054 | 30 | c.956 others(47): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LAMC1_chr1_183018420_183150592 | 183077776 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0022 | 1 | 308 | 0.0033 | 30 | c.419 others(49): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LAMC1_chr1_183018420_183150592 | 183149406 | T | TCACATCC others(23): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0080 | 1 | 308 | 0.0033 | 30 | c.*66 others(41): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3815 | chr1 | TogoVar | |||||||
LAMC1_chr1_183018420_183150592 | 183150232 | C | CCTCCTCA others(23): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0043 | a0001c0043t0003 | a0001c0043t0003g0277 | 1 | 308 | 0.0033 | 30 | c.*74 others(41): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 4641 | chr1 | TogoVar | |||||||
LAMC3_chr9_131004174_131099473 | 131022215 | A | AACACACA others(23): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0093 | a0093c0088 | a0093c0088t0002 | a0093c0088t0002g0021 | 1 | 360 | 0.0028 | 30 | c.374 others(47): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LAMC3_chr9_131004174_131099473 | 131046518 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18966.hp2 |
a0005a0020 | a0005c0007a0020c0006 | a0005c0007t0003a0020c0006t0017 | a0005c0007t0003g0325 a0020c0006t0017g0281 |
2 | 360 | 0.0056 | 30 | c.151 others(47): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LAMC3_chr9_131004174_131099473 | 131047165 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0085 | a0085c0170 | a0085c0170t0037 | a0085c0170t0037g0089 | 1 | 360 | 0.0028 | 30 | c.151 others(49): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LAMP2_chrX_120421148_120474296 | 120439581 | A | ATGTGCAT others(23): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 297 | 0.0034 | 30 | c.109 others(49): Show |
LAMP2 | ENSG00000005893.17 | transcript | ENST00000200639.9 | protein_coding | 8/8 | chrX | TogoVar | |||||||
LAMP3_chr3_183117215_183167734 | 183149574 | A | AAAAAATA others(23): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0061 | 1 | 372 | 0.0027 | 30 | c.888 others(47): Show |
LAMP3 | ENSG00000078081.8 | transcript | ENST00000265598.8 | protein_coding | 3/5 | chr3 | TogoVar | |||||||
LAMP5_chr20_9509590_9535524 | 9517621 | A | ATGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03098.hp2 NA18998.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0343 a0002c0002t0002g0312 a0002c0002t0002g0313 others(1): Show |
4 | 448 | 0.0089 | 30 | c.476 others(45): Show |
LAMP5 | ENSG00000125869.10 | transcript | ENST00000246070.3 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
LAMTOR3_chr4_99873336_99899427 | 99879931 | A | ACTACTAC others(23): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(185): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0015 others(44): Show |
188 | 384 | 0.4896 | 30 | c.*20 others(41): Show |
LAMTOR3 | ENSG00000109270.13 | transcript | ENST00000499666.7 | protein_coding | 7/7 | 2062 | chr4 | TogoVar | ||||||
LAP3_chr4_17572198_17612970 | 17580184 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02717.hp2 HG03516.hp2 |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0209 a0001c0005t0003g0210 a0001c0005t0003g0211 |
3 | 300 | 0.0100 | 30 | c.218 others(45): Show |
LAP3 | ENSG00000002549.13 | transcript | ENST00000226299.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LAPTM4A_chr2_20027650_20056628 | 20047696 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 a0001c0001t0001g0127 |
2 | 424 | 0.0047 | 30 | c.111 others(47): Show |
LAPTM4A | ENSG00000068697.7 | transcript | ENST00000175091.5 | protein_coding | 1/6 | chr2 | TogoVar | |||||||
LAPTM4B_chr8_97770788_97858013 | 97834144 | G | GAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01243.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010 | a0001c0001t0007g0370 a0001c0001t0010g0181 |
2 | 380 | 0.0053 | 30 | c.603 others(47): Show |
LAPTM4B | ENSG00000104341.17 | transcript | ENST00000521545.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LARGE1_chr22_33267509_33925476 | 33538801 | C | CTAGAAAA others(23): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0003 | 1 | 110 | 0.0091 | 30 | c.787 others(49): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 6/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33722251 | A | AGAGGGAG others(23): Show |
intron_variant | MODIFIER | HG02683.hp1 NA19030.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0005a0001c0007t0010a0001c0008t0012 | a0001c0001t0005g0027 a0001c0007t0010g0006 a0001c0008t0012g0094 |
3 | 110 | 0.0273 | 30 | c.106 others(49): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 2/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33878129 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 110 | 0.0091 | 30 | c.-83 others(49): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
LARP1B_chr4_128056312_128216988 | 128060773 | C | CGAGGCGC others(23): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0131 a0001c0001t0007g0132 a0001c0001t0007g0133 others(1): Show |
4 | 336 | 0.0119 | 30 | c.-70 others(39): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 538 | chr4 | TogoVar | |||||||
LARP1B_chr4_128056312_128216988 | 128098747 | G | GTGTGTAT others(23): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01167.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0162 others(9): Show |
12 | 336 | 0.0357 | 30 | c.813 others(45): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LARP1B_chr4_128056312_128216988 | 128098747 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01346.hp2 HG02602.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 a0001c0001t0001g0166 a0001c0001t0001g0175 others(2): Show |
5 | 336 | 0.0149 | 30 | c.813 others(45): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |