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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMTA1_chr1_6780454_7774706 | 7107278 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02257.hp1 HG02280.hp2 others(10): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0015others(10): Show | a0001c0001t0003g0048 a0001c0001t0008g0003 a0001c0001t0015g0037 others(10): Show |
13 | 15 | 0.8667 | 8 | c.302 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7197678 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02523.hp2 HG03130.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0023a0002c0004t0011 | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0003t0023g0045 others(1): Show |
4 | 18 | 0.2222 | 8 | c.303 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 7221906 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03453.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0016 a0001c0002t0003g0007 |
2 | 41 | 0.0488 | 8 | c.303 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7242771 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02280.hp2 HG02723.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0002t0004a0001c0002t0006others(1): Show | a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0002t0004g0030 others(2): Show |
5 | 22 | 0.2273 | 8 | c.303 others(25): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7271565 | G | GAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG02004.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0011 a0001c0001t0003g0047 a0001c0001t0005g0038 others(5): Show |
8 | 31 | 0.2581 | 8 | c.438 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7277456 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0012a0002c0004t0011 | a0001c0001t0012g0051 a0002c0004t0011g0005 |
2 | 27 | 0.0741 | 8 | c.438 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7277469 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01243.hp2 HG02055.hp1 others(15): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(13): Show | a0001c0001t0001g0013 a0001c0001t0002g0001 a0001c0001t0002g0009 others(15): Show |
18 | 56 | 0.3214 | 8 | c.438 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7340552 | G | GCCTCCCT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02132.hp1 HG02523.hp2 others(8): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(6): Show | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0024 others(8): Show |
11 | 58 | 0.1897 | 8 | c.438 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7370914 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02132.hp1 HG02132.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0013a0001c0002t0004others(1): Show | a0001c0001t0001g0040 a0001c0001t0013g0056 a0001c0002t0004g0030 others(1): Show |
4 | 6 | 0.6667 | 8 | c.439 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7391328 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 NA18999.hp2 NA20300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0003 | a0001c0001t0001g0013 a0001c0001t0012g0051 a0001c0002t0003g0007 |
3 | 6 | 0.5000 | 8 | c.439 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7492670 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01243.hp1 others(40): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0002g0001 others(40): Show |
43 | 58 | 0.7414 | 8 | c.510 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7498191 | A | AGTGTTGG others(1): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02055.hp2 HG02451.hp1 others(1): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0016others(1): Show | a0001c0002t0003a0001c0003t0001a0001c0016t0024others(1): Show | a0001c0002t0003g0025 a0001c0003t0001g0004 a0001c0016t0024g0053 others(1): Show |
4 | 48 | 0.0833 | 8 | c.510 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7528802 | G | GATGAATG others(1): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03688.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0009t0019 | a0001c0001t0001g0011 a0001c0001t0002g0046 a0001c0009t0019g0039 |
3 | 34 | 0.0882 | 8 | c.510 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7542838 | A | AGTTTGTG others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG01496.hp2 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0006 a0001c0001t0003g0047 a0001c0001t0007g0021 others(6): Show |
9 | 21 | 0.4286 | 8 | c.510 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7591890 | T | TTATTTAT others(1): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0005a0001c0006t0005 | a0001c0001t0005g0038 a0001c0006t0005g0057 |
2 | 58 | 0.0345 | 8 | c.511 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7602080 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG02523.hp2 HG02647.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(1): Show | a0001c0001t0001g0011 a0001c0001t0008g0003 a0001c0001t0013g0054 others(1): Show |
4 | 19 | 0.2105 | 8 | c.511 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7607118 | A | AGGATGGA others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG03041.hp2 |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0002a0001c0001t0020a0006c0013t0009 | a0001c0001t0002g0002 a0001c0001t0020g0049 a0006c0013t0009g0033 |
3 | 47 | 0.0638 | 8 | c.511 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7654810 | C | CACACCTA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02004.hp1 HG02622.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0010others(2): Show | a0001c0001t0003a0001c0003t0010a0001c0010t0004others(2): Show | a0001c0001t0003g0047 a0001c0003t0010g0035 a0001c0010t0004g0031 others(2): Show |
5 | 58 | 0.0862 | 8 | c.665 others(25): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7667741 | A | ATGGCAGC others(1): Show |
intron_variant | MODIFIER | HG03579.hp2 NA20300.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0010 | a0001c0002t0001g0020 a0001c0003t0010g0035 |
2 | 58 | 0.0345 | 8 | c.265 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7688011 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02451.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0002g0046 a0001c0001t0003g0022 a0001c0001t0003g0048 others(6): Show |
9 | 43 | 0.2093 | 8 | c.291 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAND1_chr12_67264358_67324953 | 67267425 | T | TTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02615.hp1 HG02895.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0001t0020a0001c0001t0021others(2): Show | a0001c0001t0017g0044 a0001c0001t0017g0045 a0001c0001t0017g0046 others(4): Show |
7 | 120 | 0.0583 | 8 | c.-22 others(19): Show |
CAND1 | ENSG00000111530.13 | transcript | ENST00000545606.6 | protein_coding | 1932 | chr12 | TogoVar | |||||||
CAND2_chr3_12791680_12839803 | 12823280 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(209): Show |
a0001a0002a0003others(29): Show | a0001c0005a0001c0007a0001c0017others(42): Show | a0001c0005t0001a0001c0005t0002a0001c0005t0003others(51): Show | a0001c0005t0001g0055 a0001c0005t0001g0237 a0001c0005t0001g0238 others(207): Show |
212 | 367 | 0.5777 | 8 | c.304 others(27): Show |
CAND2 | ENSG00000144712.13 | transcript | ENST00000456430.6 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 78987377 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(33): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0007others(4): Show | a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0014 others(21): Show |
36 | 176 | 0.2045 | 8 | c.*61 others(19): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 4338 | chr17 | TogoVar | |||||||
CAP1_chr1_40035729_40077648 | 40062773 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01071.hp1 HG01071.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0032 a0001c0001t0001g0112 a0001c0001t0001g0114 others(11): Show |
20 | 39 | 0.5128 | 8 | c.294 others(23): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17436067 | A | ATCTTTCT others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02258.hp1 HG03098.hp2 others(1): Show |
a0001a0004 | a0001c0002a0004c0010 | a0001c0002t0001a0004c0010t0002 | a0001c0002t0001g0002 a0001c0002t0001g0012 a0001c0002t0001g0144 others(1): Show |
4 | 201 | 0.0199 | 8 | c.222 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17436086 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01243.hp1 HG01884.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0067 a0001c0001t0001g0080 a0001c0001t0001g0081 others(14): Show |
17 | 110 | 0.1545 | 8 | c.222 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17436086 | T | TTTCTTTC others(1): Show |
intron_variant | MODIFIER | HG01978.hp2 HG03834.hp1 HG03927.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0002t0001g0020 |
3 | 96 | 0.0313 | 8 | c.222 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17438433 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 HG02818.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0004t0002others(1): Show | a0001c0001t0001g0068 a0001c0001t0001g0092 a0001c0003t0001g0072 others(3): Show |
6 | 128 | 0.0469 | 8 | c.222 others(27): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17443574 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00609.hp2 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0035 a0001c0001t0001g0080 a0001c0001t0001g0081 others(47): Show |
50 | 116 | 0.4310 | 8 | c.222 others(27): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17444804 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01975.hp1 HG02055.hp2 others(19): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0142 others(19): Show |
22 | 38 | 0.5789 | 8 | c.222 others(27): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17469416 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 a0001c0001t0002g0175 |
2 | 200 | 0.0100 | 8 | c.300 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17499398 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0001a0001c0009a0001c0013 | a0001c0001t0001a0001c0009t0001a0001c0013t0001 | a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0067 others(2): Show |
5 | 92 | 0.0543 | 8 | c.301 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17499848 | C | CATAAATA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00642.hp1 others(72): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0019 others(72): Show |
75 | 129 | 0.5814 | 8 | c.301 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17500340 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01071.hp1 HG01106.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0030 others(15): Show |
18 | 34 | 0.5294 | 8 | c.301 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17517902 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03540.hp2 HG03579.hp1 others(2): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0009t0001 | a0001c0003t0001g0065 a0001c0003t0001g0072 a0001c0003t0001g0075 others(2): Show |
5 | 201 | 0.0249 | 8 | c.636 others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPG_chr2_85389753_85415366 | 85397704 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03486.hp2 NA19043.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0086 a0001c0003t0001g0153 a0001c0003t0001g0154 |
3 | 326 | 0.0092 | 8 | c.892 others(23): Show |
CAPG | ENSG00000042493.16 | transcript | ENST00000263867.9 | protein_coding | 8/9 | chr2 | TogoVar | |||||||
CAPG_chr2_85389753_85415366 | 85408338 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00673.hp2 others(31): Show |
a0001 | a0001c0002a0001c0003a0001c0010 | a0001c0002t0001a0001c0003t0001a0001c0010t0001 | a0001c0002t0001g0005 a0001c0002t0001g0017 a0001c0002t0001g0034 others(19): Show |
34 | 63 | 0.5397 | 8 | c.-14 others(25): Show |
CAPG | ENSG00000042493.16 | transcript | ENST00000263867.9 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44177475 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp2 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(9): Show |
52 | 418 | 0.1244 | 8 | c.141 others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44178749 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02040.hp1 HG02615.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(6): Show |
12 | 310 | 0.0387 | 8 | c.141 others(25): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 12/22 | chr6 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44181574 | C | CCACACTC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(108): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(42): Show |
111 | 132 | 0.8409 | 8 | c.193 others(25): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44187536 | G | GGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG01168.hp2 HG01928.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(11): Show |
26 | 86 | 0.3023 | 8 | c.*36 others(19): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 3136 | chr6 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38736923 | A | ACTCCCCT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00738.hp1 others(18): Show |
a0003a0010 | a0003c0005a0010c0018 | a0003c0005t0004a0010c0018t0004 | a0003c0005t0004g0019 a0003c0005t0004g0020 a0003c0005t0004g0021 others(18): Show |
21 | 338 | 0.0621 | 8 | c.136 others(25): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 10/20 | chr19 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30758809 | T | TTCCCTTC others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG00738.hp2 others(41): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0015 a0001c0001t0001g0042 a0001c0001t0001g0078 others(40): Show |
44 | 375 | 0.1173 | 8 | c.775 others(23): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 7/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30768678 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00621.hp1 others(14): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0004a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0115 a0001c0001t0002g0250 a0001c0001t0002g0252 others(14): Show |
17 | 324 | 0.0525 | 8 | c.524 others(25): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 5/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30800116 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00741.hp2 others(64): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0015 a0001c0001t0001g0130 a0001c0001t0001g0142 others(64): Show |
67 | 154 | 0.4351 | 8 | c.-33 others(25): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31179060 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01891.hp1 HG01975.hp1 others(5): Show |
a0001a0023 | a0001c0001a0001c0003a0001c0031others(1): Show | a0001c0001t0002a0001c0003t0003a0001c0003t0015others(2): Show | a0001c0001t0002g0013 a0001c0001t0002g0074 a0001c0003t0003g0200 others(4): Show |
8 | 90 | 0.0889 | 8 | c.171 others(25): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31181386 | T | TTCTCTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00673.hp1 others(26): Show |
a0002a0003a0005others(6): Show | a0002c0002a0002c0004a0002c0012others(11): Show | a0002c0002t0001a0002c0004t0001a0002c0004t0005others(14): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0004 others(23): Show |
29 | 252 | 0.1151 | 8 | c.164 others(25): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31181398 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01167.hp2 others(4): Show |
a0001a0008 | a0001c0001a0001c0036a0008c0008 | a0001c0001t0002a0001c0001t0003a0001c0036t0004others(1): Show | a0001c0001t0002g0014 a0001c0001t0002g0112 a0001c0001t0003g0169 others(4): Show |
7 | 91 | 0.0769 | 8 | c.164 others(25): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31190137 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00741.hp2 others(65): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0004a0002c0012others(9): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0017others(13): Show | a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0004 others(43): Show |
68 | 222 | 0.3063 | 8 | c.128 others(25): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31201122 | C | CATGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(98): Show |
a0001a0002a0004others(8): Show | a0001c0003a0001c0039a0002c0002others(9): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(21): Show | a0001c0003t0001g0206 a0001c0003t0003g0025 a0001c0003t0003g0026 others(73): Show |
101 | 324 | 0.3117 | 8 | c.552 others(23): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 5/21 | chr2 | TogoVar |