regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANGPTL6_chr19_10087338_10107678 | 10101606 | AAGACCAG others(2278): Show |
A | splice_donor_variant others(4): Show |
HIGH | HG00099.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0187a0001c0001t0004g0188 | 2 | 462 | 0.0043 | -2285 | c.-13 others(13): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 1/6 | chr19 | TogoVar | ||||||
ANHX_chr12_133213312_133240877 | 133219374 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(299): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0006a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(209): Show | 302 | 442 | 0.6833 | 0 | c.128 others(6): Show |
ANHX | ENSG00000227059.7 | transcript | ENST00000545940.6 | protein_coding | 8/9 | chr12 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41661944 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(210): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(73): Show | a0001c0001t0001g0148a0001c0001t0001g0155a0001c0001t0001g0160others(210): Show | 213 | 278 | 0.7662 | 0 | c.547 others(6): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 40/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41683253 | GCACGATA others(1276): Show |
G | splice_region_variant others(1): Show |
LOW | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0227 | 1 | 278 | 0.0036 | -1283 | c.453 others(16): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 37/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41723118 | T | C | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00639.hp1 HG00738.hp1 others(5): Show |
a0001a0003a0008 | a0001c0051a0001c0052a0003c0014others(2): Show | a0001c0051t0008a0001c0052t0001a0003c0014t0002others(3): Show | a0001c0051t0008g0274a0001c0052t0001g0235a0003c0014t0002g0209others(5): Show | 8 | 278 | 0.0288 | 0 | c.909 others(5): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 9/42 | chr8 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41727905 | T | C | splice_region_variant others(1): Show |
LOW | HG02723.hp2 | a0001 | a0001c0046 | a0001c0046t0030 | a0001c0046t0030g0277 | 1 | 278 | 0.0036 | 0 | c.327 others(5): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 4/42 | chr8 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113278566 | C | G | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG03453.hp1 |
a0002a0003 | a0002c0035a0003c0034 | a0002c0035t0001a0003c0034t0001 | a0002c0035t0001g0169a0003c0034t0001g0056 | 2 | 178 | 0.0112 | 0 | c.188 others(6): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 17/45 | chr4 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113293432 | C | T | splice_region_variant others(1): Show |
LOW | HG01175.hp1 HG01346.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0167a0002c0002t0001g0168 | 2 | 178 | 0.0112 | 0 | c.237 others(6): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 21/45 | chr4 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113348277 | A | G | missense_variant others(1): Show |
MODERATE | HG00639.hp2 | a0020 | a0020c0021 | a0020c0021t0001 | a0020c0021t0001g0070 | 1 | 178 | 0.0056 | 0 | c.437 others(4): Show |
p.Glu others(7): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 36/46 | 4449/14215 | 4373/11874 | 1458/3957 | chr4 | TogoVar | ||
ANK3_chr10_60021298_60394875 | 60082740 | A | G | splice_region_variant others(1): Show |
LOW | HG01515.hp2 HG02145.hp2 HG02451.hp1 others(10): Show |
a0001a0003a0004others(2): Show | a0001c0055a0001c0056a0001c0084others(7): Show | a0001c0055t0015a0001c0056t0005a0001c0084t0054others(10): Show | a0001c0055t0015g0130a0001c0056t0005g0039a0001c0084t0054g0038others(10): Show | 13 | 192 | 0.0677 | 0 | c.420 others(6): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 33/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60086890 | G | A | splice_region_variant others(1): Show |
LOW | HG03098.hp1 | a0001 | a0001c0084 | a0001c0084t0054 | a0001c0084t0054g0038 | 1 | 192 | 0.0052 | 0 | c.354 others(6): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 29/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60172894 | G | T | splice_region_variant others(1): Show |
LOW | HG02615.hp1 HG02717.hp1 HG02723.hp1 others(4): Show |
a0001a0010 | a0001c0001a0001c0015a0010c0053 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0133a0001c0001t0002g0080a0001c0001t0006g0003others(4): Show | 7 | 192 | 0.0365 | 0 | c.238 others(6): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 20/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60196628 | G | GA | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG01070.hp1 HG01071.hp1 others(23): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(22): Show | a0001c0001t0001g0065a0001c0001t0007g0166a0001c0001t0009g0016others(23): Show | 26 | 192 | 0.1354 | 1 | c.169 others(7): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 14/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60196628 | G | GAAA | splice_region_variant others(1): Show |
LOW | HG01123.hp1 HG02083.hp1 HG02451.hp2 others(17): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0007a0001c0039others(13): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0026others(16): Show | a0001c0001t0001g0126a0001c0001t0008g0047a0001c0001t0026g0073others(17): Show | 20 | 192 | 0.1042 | 3 | c.169 others(16): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 14/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60200123 | G | A | splice_region_variant others(1): Show |
LOW | HG02145.hp2 HG02451.hp2 HG02572.hp2 others(5): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0039a0001c0047others(4): Show | a0001c0001t0008a0001c0001t0042a0001c0039t0012others(5): Show | a0001c0001t0008g0047a0001c0001t0042g0145a0001c0039t0012g0034others(5): Show | 8 | 192 | 0.0417 | 0 | c.149 others(6): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 13/43 | chr10 | TogoVar | ||||||
ANKAR_chr2_189669670_189751647 | 189693182 | G | A | splice_region_variant others(1): Show |
LOW | HG02895.hp1 HG02897.hp1 HG03139.hp2 others(2): Show |
a0006 | a0006c0004 | a0006c0004t0001 | a0006c0004t0001g0068a0006c0004t0001g0069a0006c0004t0001g0070others(2): Show | 5 | 296 | 0.0169 | 0 | c.130 others(6): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 5/22 | chr2 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64915905 | G | A | splice_region_variant others(1): Show |
LOW | NA18948.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0327 | 1 | 338 | 0.0030 | 0 | c.138 others(5): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 2/14 | chr15 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64921914 | C | T | splice_region_variant others(1): Show |
LOW | HG01167.hp2 HG01169.hp2 HG02145.hp1 others(13): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0243others(13): Show | 16 | 338 | 0.0473 | 0 | c.268 others(5): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 3/14 | chr15 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64921923 | T | C | splice_region_variant others(1): Show |
LOW | HG03139.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0226 | 1 | 338 | 0.0030 | 0 | c.270 others(3): Show |
p.Phe others(5): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 4/15 | 299/3101 | 270/1569 | 90/522 | chr15 | TogoVar | ||
ANKDD1A_chr15_64906902_64963691 | 64930824 | G | A | splice_region_variant others(1): Show |
LOW | HG02280.hp1 HG02970.hp1 HG03579.hp2 others(1): Show |
a0001a0002 | a0001c0009a0001c0015a0002c0016 | a0001c0009t0003a0001c0015t0002a0002c0016t0002 | a0001c0009t0003g0180a0001c0009t0003g0195a0001c0015t0002g0261others(1): Show | 4 | 338 | 0.0118 | 0 | c.573 others(3): Show |
p.Glu others(6): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 7/15 | 602/3101 | 573/1569 | 191/522 | chr15 | TogoVar | ||
ANKDD1A_chr15_64906902_64963691 | 64934241 | A | G | splice_region_variant others(1): Show |
LOW | HG01168.hp1 HG01169.hp1 HG01261.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0006a0002c0003t0002 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0002t0006g0011others(5): Show | 8 | 338 | 0.0237 | 0 | c.867 others(5): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 9/14 | chr15 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64943580 | A | G | missense_variant others(1): Show |
MODERATE | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(68): Show |
a0002a0005 | a0002c0003a0002c0005a0002c0006others(2): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0006others(4): Show | a0002c0003t0001g0189a0002c0003t0001g0190a0002c0003t0002g0019others(66): Show | 71 | 338 | 0.2101 | 0 | c.106 others(4): Show |
p.Lys others(6): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 11/15 | 1092/3101 | 1063/1569 | 355/522 | chr15 | TogoVar | ||
ANKDD1A_chr15_64906902_64963691 | 64949980 | C | T | splice_region_variant others(1): Show |
LOW | NA18953.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0016 | 2 | 338 | 0.0059 | 0 | c.148 others(6): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | chr15 | TogoVar | ||||||
ANKDD1B_chr5_75606453_75676846 | 75663395 | A | G | missense_variant others(1): Show |
MODERATE | HG00735.hp1 HG01109.hp2 HG01167.hp1 others(25): Show |
a0006a0008a0011others(4): Show | a0006c0009a0008c0008a0011c0012others(4): Show | a0006c0009t0007a0008c0008t0004a0011c0012t0004others(4): Show | a0006c0009t0007g0141a0006c0009t0007g0207a0006c0009t0007g0209others(24): Show | 28 | 372 | 0.0753 | 0 | c.109 others(4): Show |
p.Gln others(6): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 11/14 | 1279/2575 | 1097/1587 | 366/528 | chr5 | TogoVar | ||
ANKEF1_chr20_10029987_10063303 | 10049383 | G | A | splice_region_variant others(1): Show |
LOW | HG01433.hp2 | a0002 | a0002c0003 | a0002c0003t0018 | a0002c0003t0018g0057 | 1 | 392 | 0.0026 | 0 | c.821 others(5): Show |
ANKEF1 | ENSG00000132623.16 | transcript | ENST00000378392.6 | protein_coding | 6/10 | chr20 | TogoVar | ||||||
ANKEF1_chr20_10029987_10063303 | 10055503 | T | G | missense_variant others(1): Show |
MODERATE | NA19043.hp2 | a0010 | a0010c0019 | a0010c0019t0050 | a0010c0019t0050g0133 | 1 | 392 | 0.0026 | 0 | c.217 others(4): Show |
p.Ile others(6): Show |
ANKEF1 | ENSG00000132623.16 | transcript | ENST00000378392.6 | protein_coding | 11/11 | 2629/5429 | 2174/2331 | 725/776 | chr20 | TogoVar | ||
ANKFN1_chr17_56148475_56522016 | 56227957 | T | A | missense_variant others(1): Show |
MODERATE | HG02451.hp2 | a0012 | a0012c0015 | a0012c0015t0003 | a0012c0015t0003g0008 | 1 | 112 | 0.0089 | 0 | c.53T others(2): Show |
p.Ile others(5): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 3/21 | 179/9314 | 53/3441 | 18/1146 | chr17 | TogoVar | ||
ANKFN1_chr17_56148475_56522016 | 56442838 | T | C | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG01884.hp2 HG02257.hp1 others(12): Show |
a0001a0003a0005others(1): Show | a0001c0004a0001c0007a0003c0003others(3): Show | a0001c0004t0006a0001c0004t0011a0001c0004t0015others(7): Show | a0001c0004t0006g0079a0001c0004t0011g0065a0001c0004t0015g0010others(12): Show | 15 | 112 | 0.1339 | 0 | c.100 others(6): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 9/20 | chr17 | TogoVar | ||||||
ANKFY1_chr17_4158821_4268979 | 4179713 | C | T | splice_region_variant others(1): Show |
LOW | HG02486.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0017 | 2 | 300 | 0.0067 | 0 | c.239 others(6): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 17/24 | chr17 | TogoVar | ||||||
ANKHD1_chr5_140396833_140544849 | 140449212 | C | T | splice_region_variant others(1): Show |
LOW | HG01243.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0314 | 1 | 322 | 0.0031 | 0 | c.114 others(4): Show |
p.Gly others(6): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 7/34 | 1284/8195 | 1149/7629 | 383/2542 | chr5 | TogoVar | ||
ANKH_chr5_14699800_14876778 | 14713538 | A | G | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG02145.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0010a0001c0001t0025a0001c0004t0010others(1): Show | a0001c0001t0010g0049a0001c0001t0010g0085a0001c0001t0010g0086others(3): Show | 6 | 232 | 0.0259 | 0 | c.126 others(6): Show |
ANKH | ENSG00000154122.14 | transcript | ENST00000284268.8 | protein_coding | 10/11 | chr5 | TogoVar | ||||||
ANKIB1_chr7_92240974_92406383 | 92398205 | G | C | splice_region_variant others(1): Show |
LOW | HG02451.hp2 HG02647.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0170a0001c0002t0001g0171 | 2 | 314 | 0.0064 | 0 | c.253 others(6): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 19/19 | chr7 | TogoVar | ||||||
ANKK1_chr11_113382779_113405416 | 113394925 | C | T | splice_region_variant others(1): Show |
LOW | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 400 | 0.0025 | 0 | c.481 others(5): Show |
ANKK1 | ENSG00000170209.5 | transcript | ENST00000303941.4 | protein_coding | 2/7 | chr11 | TogoVar | ||||||
ANKK1_chr11_113382779_113405416 | 113396069 | T | A | missense_variant others(1): Show |
MODERATE | HG00408.hp1 | a0028 | a0028c0029 | a0028c0029t0001 | a0028c0029t0001g0057 | 1 | 400 | 0.0025 | 0 | c.685 others(3): Show |
p.Phe others(6): Show |
ANKK1 | ENSG00000170209.5 | transcript | ENST00000303941.4 | protein_coding | 5/8 | 791/2553 | 685/2298 | 229/765 | chr11 | TogoVar | ||
ANKK1_chr11_113382779_113405416 | 113398957 | C | G | splice_region_variant others(1): Show |
LOW | HG02109.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0081 | 2 | 400 | 0.0050 | 0 | c.995 others(5): Show |
ANKK1 | ENSG00000170209.5 | transcript | ENST00000303941.4 | protein_coding | 7/7 | chr11 | TogoVar | ||||||
ANKLE1_chr19_17276901_17292646 | 17282057 | G | A | stop_gained others(1): Show |
HIGH | HG01884.hp1 | a0012 | a0012c0015 | a0012c0015t0011 | a0012c0015t0011g0011 | 1 | 406 | 0.0025 | 0 | c.63G others(2): Show |
p.Trp others(3): Show |
ANKLE1 | ENSG00000160117.16 | transcript | ENST00000404085.7 | protein_coding | 2/9 | 83/2962 | 63/1848 | 21/615 | chr19 | TogoVar | ||
ANKLE1_chr19_17276901_17292646 | 17282208 | C | G | missense_variant others(1): Show |
MODERATE | HG02630.hp2 | a0018 | a0018c0032 | a0018c0032t0004 | a0018c0032t0004g0005 | 1 | 406 | 0.0025 | 0 | c.214 others(3): Show |
p.Arg others(5): Show |
ANKLE1 | ENSG00000160117.16 | transcript | ENST00000404085.7 | protein_coding | 2/9 | 234/2962 | 214/1848 | 72/615 | chr19 | TogoVar | ||
ANKLE1_chr19_17276901_17292646 | 17282649 | G | T | splice_region_variant others(1): Show |
LOW | HG06807.hp1 | a0020 | a0020c0030 | a0020c0030t0047 | a0020c0030t0047g0030 | 1 | 406 | 0.0025 | 0 | c.216 others(5): Show |
ANKLE1 | ENSG00000160117.16 | transcript | ENST00000404085.7 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
ANKLE1_chr19_17276901_17292646 | 17287380 | GAGATTGT others(1662): Show |
G | splice_region_variant | LOW | HG02258.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0004 | 2 | 406 | 0.0049 | -1669 | c.*82 others(10): Show |
ANKLE1 | ENSG00000160117.16 | transcript | ENST00000404085.7 | protein_coding | 9/9 | chr19 | TogoVar | ||||||
ANKLE2_chr12_132720503_132766832 | 132736886 | A | T | splice_region_variant others(1): Show |
LOW | HG01106.hp1 HG02451.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0132a0001c0001t0001g0320others(3): Show | 7 | 350 | 0.0200 | 0 | c.159 others(6): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 8/12 | chr12 | TogoVar | ||||||
ANKMY1_chr2_240474422_240562988 | 240499953 | C | T | splice_region_variant others(1): Show |
LOW | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 320 | 0.0031 | 0 | c.280 others(6): Show |
ANKMY1 | ENSG00000144504.16 | transcript | ENST00000401804.6 | protein_coding | 15/17 | chr2 | TogoVar | ||||||
ANKMY1_chr2_240474422_240562988 | 240509453 | A | G | splice_region_variant others(1): Show |
LOW | NA18522.hp1 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0187 | 1 | 320 | 0.0031 | 0 | c.228 others(4): Show |
p.Cys others(6): Show |
ANKMY1 | ENSG00000144504.16 | transcript | ENST00000401804.6 | protein_coding | 12/18 | 2414/3405 | 2289/3093 | 763/1030 | chr2 | TogoVar | ||
ANKMY1_chr2_240474422_240562988 | 240512795 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(192): Show |
a0001a0003a0004others(15): Show | a0001c0001a0001c0006a0001c0008others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0011others(185): Show | 195 | 320 | 0.6094 | 0 | c.214 others(6): Show |
ANKMY1 | ENSG00000144504.16 | transcript | ENST00000401804.6 | protein_coding | 10/17 | chr2 | TogoVar | ||||||
ANKMY1_chr2_240474422_240562988 | 240520362 | C | T | splice_region_variant others(1): Show |
LOW | NA19005.hp1 | a0009 | a0009c0026 | a0009c0026t0001 | a0009c0026t0001g0165 | 1 | 320 | 0.0031 | 0 | c.200 others(4): Show |
p.Gln others(6): Show |
ANKMY1 | ENSG00000144504.16 | transcript | ENST00000401804.6 | protein_coding | 9/18 | 2129/3405 | 2004/3093 | 668/1030 | chr2 | TogoVar | ||
ANKMY2_chr7_16594779_16650754 | 16602376 | A | G | splice_region_variant others(1): Show |
LOW | NA21309.hp2 | a0006 | a0006c0015 | a0006c0015t0012 | a0006c0015t0012g0194 | 1 | 402 | 0.0025 | 0 | c.114 others(6): Show |
ANKMY2 | ENSG00000106524.9 | transcript | ENST00000306999.7 | protein_coding | 9/9 | chr7 | TogoVar | ||||||
ANKMY2_chr7_16594779_16650754 | 16636457 | T | TA | splice_region_variant others(1): Show |
LOW | HG00423.hp1 HG00438.hp1 HG00609.hp2 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0038others(66): Show | 78 | 402 | 0.1940 | 1 | c.68- others(5): Show |
ANKMY2 | ENSG00000106524.9 | transcript | ENST00000306999.7 | protein_coding | 1/9 | chr7 | TogoVar | ||||||
ANKRA2_chr5_73547190_73570639 | 73552856 | G | C | splice_region_variant others(1): Show |
LOW | HG02071.hp1 NA18959.hp2 NA18960.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0009a0001c0001t0002g0055a0001c0001t0015g0053 | 9 | 392 | 0.0230 | 0 | c.887 others(5): Show |
ANKRA2 | ENSG00000164331.10 | transcript | ENST00000296785.8 | protein_coding | 8/8 | chr5 | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89268667 | C | T | splice_region_variant others(1): Show |
LOW | HG01975.hp2 | a0003 | a0003c0031 | a0003c0031t0001 | a0003c0031t0001g0043 | 1 | 310 | 0.0032 | 0 | c.780 others(6): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 12/12 | chr16 | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89290618 | T | C | splice_region_variant others(1): Show |
LOW | NA21309.hp1 | a0031 | a0031c0052 | a0031c0052t0003 | a0031c0052t0003g0120 | 1 | 310 | 0.0032 | 0 | c.601 others(5): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 6/12 | chr16 | TogoVar | ||||||
ANKRD13A_chr12_109994430_110044763 | 109999792 | G | A | splice_region_variant others(1): Show |
LOW | NA19054.hp2 NA19074.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0038 | 3 | 274 | 0.0110 | 0 | c.96+ others(4): Show |
ANKRD13A | ENSG00000076513.17 | transcript | ENST00000261739.9 | protein_coding | 1/14 | chr12 | TogoVar |