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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2120): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0042 | a0042c0056 | a0042c0056t0001 | a0042c0056t0001g0093 | 1 | 13 | 0.0769 | 2127 | c.354 others(2146): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CYB5RL_chr1_54164651_54205030 | 54185303 | T | TGAAAGAT others(2120): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 408 | 0.0025 | 2127 | c.436 others(2144): Show |
CYB5RL | ENSG00000215883.11 | transcript | ENST00000534324.6 | protein_coding | 5/7 | chr1 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811273 | C | CCTTCCTT others(2120): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 166 | 0.0060 | 2127 | c.773 others(2142): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATA others(2120): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 HG04184.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 2 | 9 | 0.2222 | 2127 | c.-20 others(2138): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2121): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 2 | 0.5000 | 2128 | c.-52 others(2149): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2121): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0004 | 1 | 2 | 0.5000 | 2128 | c.-52 others(2149): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585576 | C | CACAGCCC others(2121): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0194 | 1 | 197 | 0.0051 | 2128 | c.294 others(2145): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9406286 | T | TCTTCCTC others(2121): Show |
3_prime_UTR_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0074 | 1 | 261 | 0.0038 | 2128 | c.*54 others(2137): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 547 | chr2 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507284 | G | GGGTAGGG others(2121): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0205 | 1 | 202 | 0.0050 | 2128 | c.624 others(2145): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124439377 | G | GGAGACAG others(2121): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0002 | a0003c0002t0066 | a0003c0002t0066g0111 | 1 | 36 | 0.0278 | 2128 | c.816 others(2145): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167969 | T | TCTCCCCT others(2121): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 228 | 0.0044 | 2128 | c.306 others(2147): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(2121): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0042 | 1 | 13 | 0.0769 | 2128 | c.*13 others(2141): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(2121): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0013 | a0001c0013t0013 | a0001c0013t0013g0061 | 1 | 4 | 0.2500 | 2128 | c.291 others(2147): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(2121): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0312 | 1 | 315 | 0.0032 | 2128 | c.115 others(2145): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 384908 | T | TGGGCAAG others(2122): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0164 | 1 | 60 | 0.0167 | 2129 | c.*31 others(2140): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 2792 | chr11 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2122): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0050 | 1 | 2 | 0.5000 | 2129 | c.-52 others(2150): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2122): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02040.hp1 HG03927.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0022others(1): Show | a0001c0001t0001g0054 a0001c0001t0011g0087 a0001c0001t0022g0009 others(1): Show |
4 | 5 | 0.8000 | 2129 | c.-52 others(2150): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43217113 | C | CTAGGCAC others(2122): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0006 | a0001c0006t0019 | a0001c0006t0019g0073 | 1 | 179 | 0.0056 | 2129 | c.-31 others(2148): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HTR3B_chr11_113899796_113954079 | 113931249 | G | GTCTAGGT others(2122): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0003 | a0003c0006 | a0003c0006t0022 | a0003c0006t0022g0206 | 1 | 413 | 0.0024 | 2129 | c.214 others(2144): Show |
HTR3B | ENSG00000149305.8 | transcript | ENST00000260191.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2122): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 249 | 0.0040 | 2129 | c.-11 others(2140): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2122): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0184 | 1 | 249 | 0.0040 | 2129 | c.-11 others(2140): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2122): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03098.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0039 | a0001c0002t0012g0291 a0001c0002t0012g0353 a0001c0002t0012g0354 others(1): Show |
4 | 11 | 0.3636 | 2129 | c.-56 others(2148): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706873 | G | GAAGTTAT others(2122): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0006 | a0006c0017 | a0006c0017t0011 | a0006c0017t0011g0136 | 1 | 411 | 0.0024 | 2129 | c.341 others(2146): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2123): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0024 | a0024c0039 | a0024c0039t0014 | a0024c0039t0014g0061 | 1 | 44 | 0.0227 | 2130 | c.108 others(2147): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(2123): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0002 | a0002c0011 | a0002c0011t0003 | a0002c0011t0003g0144 | 1 | 204 | 0.0049 | 2130 | c.106 others(2149): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(2123): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 82 | 0.0122 | 2130 | c.106 others(2149): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44181617 | A | ACACACAC others(2123): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 436 | 0.0023 | 2130 | c.193 others(2147): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CFHR1_chr1_196814731_196837189 | 196817006 | C | CTTTCAAA others(2123): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0046 | 1 | 274 | 0.0036 | 2130 | c.-28 others(2141): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 2724 | chr1 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2123): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0073 | 1 | 2 | 0.5000 | 2130 | c.-52 others(2151): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958205 | T | TATAACCA others(2123): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0058 | 1 | 228 | 0.0044 | 2130 | c.724 others(2149): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128546638 | T | TGCAAATA others(2123): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0030 | 1 | 284 | 0.0035 | 2130 | c.214 others(2147): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252992 | C | CCACCACC others(2123): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 286 | 0.0035 | 2130 | c.666 others(2147): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43217113 | C | CTAGGCAC others(2123): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0133 | 1 | 179 | 0.0056 | 2130 | c.-31 others(2149): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2123): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173 | 1 | 249 | 0.0040 | 2130 | c.-11 others(2141): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2123): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 249 | 0.0040 | 2130 | c.-11 others(2141): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2123): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 a0001c0001t0003g0166 |
2 | 250 | 0.0080 | 2130 | c.-11 others(2141): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2123): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 249 | 0.0040 | 2130 | c.-11 others(2141): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2123): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0014 | a0014c0012 | a0014c0012t0002 | a0014c0012t0002g0092 | 1 | 32 | 0.0313 | 2130 | c.218 others(2145): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 978002 | A | AGGAACCG others(2123): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0011 | a0011c0029 | a0011c0029t0001 | a0011c0029t0001g0079 | 1 | 193 | 0.0052 | 2130 | c.214 others(2147): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2123): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0028 | a0001c0002t0009g0296 a0001c0002t0028g0287 a0001c0002t0028g0288 |
3 | 10 | 0.3000 | 2130 | c.-56 others(2149): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 978002 | A | AGGAACCG others(2123): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0003 | a0003c0003 | a0003c0003t0010 | a0003c0003t0010g0098 | 1 | 197 | 0.0051 | 2130 | c.*34 others(2141): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 2138 | chr1 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870169 | A | ACACCCCA others(2123): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 305 | 0.0033 | 2130 | c.*35 others(2149): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2123): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0005 | a0005c0008 | a0005c0008t0008 | a0005c0008t0008g0206 | 1 | 356 | 0.0028 | 2130 | c.341 others(2147): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
VNN1_chr6_132675849_132719055 | 132706873 | G | GAAGTTAT others(2123): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02886.hp1 HG03579.hp1 |
a0006 | a0006c0006 | a0006c0006t0011 | a0006c0006t0011g0024 | 3 | 413 | 0.0073 | 2130 | c.341 others(2147): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706449 | C | CATAGATA others(2124): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0277 | 1 | 232 | 0.0043 | 2131 | c.228 others(2148): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATAGATA others(2124): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0003 | a0003c0013 | a0003c0013t0002 | a0003c0013t0002g0250 | 1 | 229 | 0.0044 | 2131 | c.228 others(2148): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATAGATA others(2124): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0003 | 1 | 289 | 0.0035 | 2131 | c.-49 others(2142): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2124): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0055 | 1 | 95 | 0.0105 | 2131 | c.*11 others(2152): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 903788 | C | CTGCACTG others(2124): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02135.hp1 HG02165.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 |
3 | 284 | 0.0106 | 2131 | c.663 others(2148): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 4/10 | chr16 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2124): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01258.hp1 HG01891.hp1 others(13): Show |
a0001a0002a0003 | a0001c0004a0001c0008a0001c0011others(7): Show | a0001c0004t0003a0001c0008t0003a0001c0008t0004others(9): Show | a0001c0004t0003g0093 a0001c0008t0003g0065 a0001c0008t0004g0066 others(13): Show |
16 | 20 | 0.8000 | 2131 | c.742 others(2148): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar |