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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMKK2_chr12_121232692_121301709 | 121268083 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01069.hp2 others(19): Show |
a0001a0002a0004others(2): Show | a0001c0007a0001c0011a0002c0002others(4): Show | a0001c0007t0001a0001c0011t0006a0002c0002t0001others(7): Show | a0001c0007t0001g0123 a0001c0007t0001g0270 a0001c0007t0001g0271 others(19): Show |
22 | 167 | 0.1317 | 16 | c.625 others(31): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 5/16 | chr12 | TogoVar | |||||||
CAMKMT_chr2_44356947_44777592 | 44497709 | A | AAGAGAGA others(9): Show |
intron_variant | MODIFIER | HG01975.hp1 NA18942.hp1 NA18964.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0059 others(2): Show |
5 | 45 | 0.1111 | 16 | c.376 others(37): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44497742 | A | AGAGAGAG others(9): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 198 | 0.0051 | 16 | c.376 others(37): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44614936 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0004 a0001c0001t0001g0100 a0001c0001t0001g0163 others(1): Show |
4 | 44 | 0.0909 | 16 | c.377 others(35): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44666612 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 138 | 0.0072 | 16 | c.377 others(35): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44673471 | G | GAGGAAGG others(9): Show |
intron_variant | MODIFIER | HG02523.hp2 HG02630.hp2 HG02922.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0055 others(5): Show |
8 | 109 | 0.0734 | 16 | c.377 others(35): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44725143 | C | CGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 53 | 0.0189 | 16 | c.623 others(33): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMP_chr3_48218495_48230485 | 48225557 | C | CGTGTGAG others(9): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 344 | 0.0029 | 16 | c.*13 others(25): Show |
CAMP | ENSG00000164047.6 | transcript | ENST00000652295.2 | protein_coding | 73 | chr3 | TogoVar | |||||||
CAMSAP1_chr9_135803487_135912546 | 135892848 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG01109.hp1 others(16): Show |
a0001a0004a0009 | a0001c0001a0001c0007a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0018a0001c0007t0001others(3): Show | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 others(16): Show |
19 | 99 | 0.1919 | 16 | c.161 others(33): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
CAMSAP3_chr19_7590863_7623304 | 7605147 | G | GGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01346.hp2 HG01884.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0020others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0003others(2): Show | a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0098 others(20): Show |
23 | 112 | 0.2054 | 16 | c.149 others(29): Show |
CAMSAP3 | ENSG00000076826.10 | transcript | ENST00000160298.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CAMSAP3_chr19_7590863_7623304 | 7614259 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG02965.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0198 |
3 | 201 | 0.0149 | 16 | c.267 others(33): Show |
CAMSAP3 | ENSG00000076826.10 | transcript | ENST00000160298.9 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CAMSAP3_chr19_7590863_7623304 | 7614936 | T | TCTCACTG others(9): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 356 | 0.0028 | 16 | c.267 others(33): Show |
CAMSAP3 | ENSG00000076826.10 | transcript | ENST00000160298.9 | protein_coding | 11/16 | chr19 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 7082440 | A | AATAGATA others(9): Show |
intron_variant | MODIFIER | HG03225.hp2 NA19043.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0013a0001c0002t0001 | a0001c0001t0002g0046 a0001c0001t0013g0054 a0001c0002t0001g0020 |
3 | 16 | 0.1875 | 16 | c.235 others(33): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7335124 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0016 | a0001c0016t0024 | a0001c0016t0024g0053 | 1 | 17 | 0.0588 | 16 | c.438 others(35): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7340544 | G | GCCTCCCT others(9): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01243.hp2 HG02004.hp2 others(12): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0040 a0001c0001t0002g0001 a0001c0001t0003g0047 others(12): Show |
15 | 27 | 0.5556 | 16 | c.438 others(35): 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(9): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03041.hp1 HG03486.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0001t0008a0001c0002t0001others(2): Show | a0001c0001t0002g0036 a0001c0001t0008g0003 a0001c0002t0001g0020 others(2): Show |
5 | 8 | 0.6250 | 16 | c.439 others(35): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7542838 | A | AGTTTGTG others(9): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 13 | 0.0769 | 16 | c.510 others(35): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7579552 | C | CTTTCTTT others(9): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0015 | a0001c0015t0006 | a0001c0015t0006g0043 | 1 | 31 | 0.0323 | 16 | c.511 others(35): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7594200 | G | GGGAAGGA others(9): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0006 | a0001c0001t0001g0006 a0001c0002t0006g0008 |
2 | 26 | 0.0769 | 16 | c.511 others(35): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7688011 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02622.hp1 NA18999.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0013 a0001c0006t0001g0055 |
2 | 36 | 0.0556 | 16 | c.291 others(37): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA2_chr17_4962997_4992675 | 4965826 | G | GTTTATTT others(9): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG01069.hp2 others(14): Show |
a0001a0007a0014 | a0001c0005a0007c0021a0014c0011 | a0001c0005t0001a0007c0021t0001a0014c0011t0001 | a0001c0005t0001g0008 a0001c0005t0001g0010 a0001c0005t0001g0027 others(5): Show |
17 | 360 | 0.0472 | 16 | c.*29 others(27): Show |
CAMTA2 | ENSG00000108509.21 | transcript | ENST00000348066.8 | protein_coding | 2170 | chr17 | TogoVar | |||||||
CAND2_chr3_12791680_12839803 | 12812221 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02559.hp2 HG02886.hp2 others(7): Show |
a0001a0007a0013others(2): Show | a0001c0005a0007c0009a0013c0014others(2): Show | a0001c0005t0001a0001c0005t0002a0001c0005t0003others(5): Show | a0001c0005t0001g0055 a0001c0005t0002g0213 a0001c0005t0002g0364 others(7): Show |
10 | 186 | 0.0538 | 16 | c.758 others(31): Show |
CAND2 | ENSG00000144712.13 | transcript | ENST00000456430.6 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79005216 | A | AGGGAGTT others(9): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0226 | 1 | 387 | 0.0026 | 16 | c.-14 others(35): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANX_chr5_179693967_179736641 | 179710707 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG01070.hp2 others(8): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0123 a0001c0001t0001g0153 others(7): Show |
11 | 116 | 0.0948 | 16 | c.721 others(31): Show |
CANX | ENSG00000127022.16 | transcript | ENST00000247461.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAP1_chr1_40035729_40077648 | 40049178 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02738.hp1 NA19007.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0043 a0001c0001t0012g0192 |
3 | 61 | 0.0492 | 16 | c.-11 others(33): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAP1_chr1_40035729_40077648 | 40062773 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0227 | 1 | 20 | 0.0500 | 16 | c.294 others(31): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17406398 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 148 | 0.0068 | 16 | c.-2+ others(33): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17436067 | A | ATCTTTCT others(9): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0145 | 1 | 198 | 0.0051 | 16 | c.222 others(33): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17436078 | T | TTTCCTTC others(9): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0202 a0001c0001t0002g0199 a0001c0001t0007g0201 |
3 | 201 | 0.0149 | 16 | c.222 others(33): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17436082 | T | TTTCCTTC others(9): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0132 | 1 | 189 | 0.0053 | 16 | c.222 others(33): 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(9): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02630.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0042 a0001c0001t0002g0038 a0001c0002t0002g0129 others(1): Show |
4 | 97 | 0.0412 | 16 | c.222 others(33): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17461992 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01943.hp2 HG03239.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0165 a0001c0001t0002g0206 a0001c0002t0001g0093 others(2): Show |
5 | 45 | 0.1111 | 16 | c.223 others(31): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17493330 | A | AAGATATG others(9): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01975.hp1 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0142 a0001c0001t0001g0143 |
3 | 204 | 0.0147 | 16 | c.301 others(35): 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(9): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0070 | 1 | 55 | 0.0182 | 16 | c.301 others(33): 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(9): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01168.hp2 HG02647.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0092 others(4): Show |
7 | 23 | 0.3043 | 16 | c.301 others(33): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPG_chr2_85389753_85415366 | 85408338 | T | TCACACAC others(9): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01255.hp2 HG01975.hp1 others(1): Show |
a0001a0003a0005 | a0001c0002a0001c0003a0003c0006others(1): Show | a0001c0002t0001a0001c0003t0001a0003c0006t0001others(1): Show | a0001c0002t0001g0216 a0001c0003t0001g0208 a0003c0006t0001g0079 others(1): Show |
4 | 33 | 0.1212 | 16 | c.-14 others(33): Show |
CAPG | ENSG00000042493.16 | transcript | ENST00000263867.9 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44182042 | C | CACACTCA others(9): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0051 |
2 | 389 | 0.0051 | 16 | c.193 others(33): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182049 | A | ACACACAC others(9): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 316 | 0.0032 | 16 | c.193 others(33): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182049 | A | ACACACAC others(9): Show |
intron_variant | MODIFIER | NA18970.hp1 NA19060.hp1 NA19063.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 4 | 319 | 0.0125 | 16 | c.193 others(33): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735549 | A | AAATTACA others(9): Show |
splice_region_variant others(1): Show |
LOW | NA18942.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0164 | 1 | 340 | 0.0029 | 16 | c.158 others(30): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735842 | C | CGGGGCGG others(9): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 326 | 0.0031 | 16 | c.158 others(33): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38736923 | A | ACTCCCCT others(9): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0033 | 1 | 318 | 0.0031 | 16 | c.136 others(33): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 10/20 | chr19 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30768678 | T | TTTCCTTC others(9): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01891.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0149 a0001c0001t0002g0231 a0001c0001t0002g0232 |
3 | 310 | 0.0097 | 16 | c.524 others(33): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 5/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30796222 | A | ATATGTAT others(9): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0001 a0001c0001t0002g0294 a0001c0001t0003g0340 |
5 | 382 | 0.0131 | 16 | c.-32 others(33): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30800116 | A | AAAAGAAA others(9): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0131 a0001c0001t0001g0247 a0001c0001t0001g0289 others(14): Show |
17 | 104 | 0.1635 | 16 | c.-33 others(33): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31177459 | T | TAAACCCC others(9): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0024 | a0024c0030 | a0024c0030t0001 | a0024c0030t0001g0248 | 1 | 324 | 0.0031 | 16 | c.185 others(33): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 19/21 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31181386 | T | TTCTCTTT others(9): Show |
intron_variant | MODIFIER | NA18989.hp2 NA19065.hp1 NA19076.hp2 others(4): Show |
a0002a0007 | a0002c0002a0002c0004a0007c0009 | a0002c0002t0001a0002c0002t0020a0002c0004t0001others(2): Show | a0002c0002t0001g0001 a0002c0002t0001g0236 a0002c0002t0020g0271 others(3): Show |
7 | 230 | 0.0304 | 16 | c.164 others(33): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 16/21 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31190137 | T | TTCTCTCT others(9): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02155.hp1 |
a0002a0006 | a0002c0004a0006c0007 | a0002c0004t0001a0006c0007t0008 | a0002c0004t0001g0135 a0006c0007t0008g0252 |
2 | 156 | 0.0128 | 16 | c.128 others(33): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 544707 | C | CCTCCCCA others(9): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0216 | 1 | 404 | 0.0025 | 16 | c.-22 others(33): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544828 | C | CCCCCACG others(9): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0302 | 1 | 408 | 0.0025 | 16 | c.-22 others(33): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |