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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMSAP2_chr1_200733893_200865704 | 200743940 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(112): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0183a0001c0001t0001g0198a0001c0001t0001g0199others(112): Show | 115 | 366 | 0.3142 | -8 | c.139 others(25): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMSAP2_chr1_200733893_200865704 | 200806765 | GTATCTAT others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00673.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0202others(35): Show | 38 | 366 | 0.1038 | -8 | c.400 others(23): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMSAP2_chr1_200733893_200865704 | 200822139 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG03704.hp1 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0359a0001c0001t0003g0040a0001c0001t0003g0062 | 3 | 366 | 0.0082 | -8 | c.645 others(25): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMSAP2_chr1_200733893_200865704 | 200861649 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(67): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0005a0004c0006others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0012others(7): Show | a0001c0001t0003g0031a0001c0001t0003g0032a0001c0001t0003g0033others(67): Show | 70 | 366 | 0.1913 | -8 | c.*35 others(19): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 946 | chr1 | TogoVar | ||||||
CAMSAP3_chr19_7590863_7623304 | 7599554 | TCATCCAT others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01934.hp1 HG03139.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0047a0001c0001t0001g0075a0001c0001t0002g0240others(4): Show | 7 | 358 | 0.0196 | -8 | c.148 others(25): Show |
CAMSAP3 | ENSG00000076826.10 | transcript | ENST00000160298.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CAMSAP3_chr19_7590863_7623304 | 7599810 | TCCACCCA others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(1): Show | 4 | 358 | 0.0112 | -8 | c.148 others(25): Show |
CAMSAP3 | ENSG00000076826.10 | transcript | ENST00000160298.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 6822794 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp1 NA20805.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0021a0002c0004t0018 | a0001c0001t0021g0014a0002c0004t0018g0015 | 2 | 58 | 0.0345 | -8 | c.116 others(25): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 6884291 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG01243.hp1 HG01496.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0007g0021a0001c0002t0002g0016others(2): Show | 5 | 58 | 0.0862 | -8 | c.234 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 6926438 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02922.hp1 HG03130.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0012a0001c0001t0013a0001c0002t0010others(3): Show | a0001c0001t0012g0051a0001c0001t0013g0054a0001c0002t0010g0010others(3): Show | 6 | 58 | 0.1035 | -8 | c.234 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 6990777 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0012a0001c0002t0003 | a0001c0001t0004g0026a0001c0001t0012g0019a0001c0002t0003g0025 | 3 | 58 | 0.0517 | -8 | c.235 others(29): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7082440 | AATAGATA others(1): Show |
A | intron_variant | MODIFIER | HG03041.hp2 HG03688.hp1 |
a0001a0005 | a0001c0009a0005c0013 | a0001c0009t0019a0005c0013t0009 | a0001c0009t0019g0039a0005c0013t0009g0033 | 2 | 58 | 0.0345 | -8 | c.235 others(25): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7103479 | CTACACAC others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02723.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0005 | a0001c0001t0002g0001a0001c0005t0005g0044 | 2 | 58 | 0.0345 | -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 | 7103551 | CTACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01884.hp1 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0002g0009others(32): Show | 35 | 58 | 0.6035 | -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 | 7254325 | CACAGCAC others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0002a0001c0001t0004g0026a0001c0001t0004g0034others(4): Show | 7 | 58 | 0.1207 | -8 | c.438 others(25): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7270232 | CACATATA others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0013 | a0001c0001t0012g0019a0001c0001t0013g0056 | 2 | 58 | 0.0345 | -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 | 7281799 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01496.hp1 HG02004.hp2 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0013a0001c0001t0003g0022a0001c0001t0005g0038others(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 | 7325850 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02132.hp1 HG03688.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0021a0001c0003t0001others(2): Show | a0001c0001t0001g0013a0001c0001t0021g0014a0001c0003t0001g0012others(2): Show | 5 | 58 | 0.0862 | -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 | 7340716 | GCATCCAT others(1): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG01496.hp1 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0009others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(11): Show | a0001c0001t0002g0009a0001c0001t0003g0022a0001c0001t0003g0048others(12): Show | 15 | 58 | 0.2586 | -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 | 7394811 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG00735.hp2 others(24): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0024others(24): Show | 27 | 58 | 0.4655 | -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 | 7410897 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02055.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0007a0001c0001t0002g0002a0001c0001t0004g0026others(8): Show | 11 | 58 | 0.1897 | -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 | 7434451 | CCATTCAT others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02523.hp2 others(6): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0004g0026others(6): Show | 9 | 58 | 0.1552 | -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 | 7528833 | GAATGAAG others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp2 HG01884.hp1 others(7): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0013others(7): Show | a0001c0001t0004g0026a0001c0001t0011g0058a0001c0001t0013g0056others(7): Show | 10 | 58 | 0.1724 | -8 | c.510 others(27): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7542838 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02622.hp1 |
a0001a0006 | a0001c0006a0006c0007 | a0001c0006t0001a0006c0007t0014 | a0001c0006t0001g0055a0006c0007t0014g0018 | 2 | 58 | 0.0345 | -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 | 7547348 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp1 HG02630.hp1 others(5): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0024a0001c0001t0002g0002a0001c0001t0004g0034others(5): Show | 8 | 58 | 0.1379 | -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 | 7553279 | GTGAATGA others(1): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0003 | a0001c0001t0012g0019a0001c0002t0003g0025 | 2 | 58 | 0.0345 | -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 | 7594200 | GGGAAGGA others(1): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG03130.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0002a0001c0003t0008a0001c0005t0005 | a0001c0001t0002g0009a0001c0001t0002g0036a0001c0003t0008g0032others(1): Show | 4 | 58 | 0.0690 | -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 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01243.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0013a0001c0001t0002g0002a0001c0001t0002g0046others(5): Show | 8 | 58 | 0.1379 | -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 | 7748238 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02922.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0004a0001c0003t0005 | a0001c0001t0002g0046a0001c0002t0004g0030a0001c0003t0005g0028 | 3 | 58 | 0.0517 | -8 | c.468 others(25): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17405498 | GTCTCTCT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG01106.hp1 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(52): Show | 55 | 206 | 0.2670 | -8 | c.-2+ others(25): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17461992 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00735.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0078others(22): Show | 25 | 206 | 0.1214 | -8 | c.223 others(23): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPG_chr2_85389753_85415366 | 85408338 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG01169.hp2 HG01884.hp1 HG02109.hp2 others(10): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(1): Show | a0001c0002t0001g0094a0001c0002t0001g0095a0001c0003t0001g0235others(5): Show | 13 | 410 | 0.0317 | -8 | c.-14 others(25): Show |
CAPG | ENSG00000042493.16 | transcript | ENST00000263867.9 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44162368 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG01891.hp1 HG01891.hp2 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0087a0001c0001t0001g0304a0001c0001t0001g0305others(12): Show | 15 | 460 | 0.0326 | -8 | c.16+ others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181449 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG02015.hp1 others(9): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0003a0007c0007others(1): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0002others(2): Show | a0001c0001t0001g0087a0003c0003t0001g0108a0003c0003t0001g0270others(8): Show | 12 | 460 | 0.0261 | -8 | c.193 others(25): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN12_chr19_38725192_38749474 | 38736964 | ACTCCTCC others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(230): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0003a0001c0006others(27): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(208): Show | 233 | 342 | 0.6813 | -8 | c.136 others(25): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 10/20 | chr19 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30759024 | TTCCTTCC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(29): Show |
a0001a0002a0013 | a0001c0001a0002c0003a0013c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0110a0001c0001t0001g0130a0001c0001t0001g0134others(29): Show | 32 | 384 | 0.0833 | -8 | c.775 others(23): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 7/22 | chr2 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30800116 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01071.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0365a0001c0001t0002g0275a0001c0001t0002g0370others(13): Show | 17 | 384 | 0.0443 | -8 | c.-33 others(25): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31179060 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01106.hp2 HG01884.hp2 others(11): Show |
a0004a0006a0021 | a0004c0006a0004c0044a0006c0007others(1): Show | a0004c0006t0005a0004c0044t0001a0006c0007t0008others(1): Show | a0004c0006t0005g0091a0004c0006t0005g0092a0004c0006t0005g0093others(11): Show | 14 | 326 | 0.0429 | -8 | c.171 others(25): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 17/21 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31181390 | CTTTCTTT others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG02300.hp2 others(5): Show |
a0002a0003a0004others(2): Show | a0002c0002a0003c0005a0003c0018others(3): Show | a0002c0002t0001a0003c0005t0016a0003c0018t0018others(3): Show | a0002c0002t0001g0198a0002c0002t0001g0226a0003c0005t0016g0017others(5): Show | 8 | 326 | 0.0245 | -8 | c.164 others(25): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31181398 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp1 HG01361.hp1 others(10): Show |
a0001a0008a0011 | a0001c0001a0001c0003a0008c0008others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0002g0018a0001c0001t0002g0051a0001c0001t0002g0052others(10): Show | 13 | 326 | 0.0399 | -8 | c.164 others(25): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 543974 | CTGCGGCC others(1): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG02622.hp1 HG02622.hp2 others(17): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0002a0002c0010others(9): Show | a0001c0001t0001a0001c0002t0009a0002c0010t0001others(11): Show | a0001c0001t0001g0301a0001c0002t0009g0247a0002c0010t0001g0022others(17): Show | 20 | 410 | 0.0488 | -8 | c.-22 others(25): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN2_chr1_223707539_223781018 | 223742516 | ATATTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02809.hp2 NA18947.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0014a0001c0002t0001g0024a0001c0002t0001g0040others(3): Show | 6 | 378 | 0.0159 | -8 | c.308 others(25): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN2_chr1_223707539_223781018 | 223742518 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01069.hp1 others(72): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0007a0001c0047others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(9): Show | a0001c0002t0001g0007a0001c0002t0001g0009a0001c0002t0001g0019others(70): Show | 75 | 378 | 0.1984 | -8 | c.308 others(25): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN3_chr15_42354501_42417317 | 42374986 | AATTTATT others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG01081.hp2 others(12): Show |
a0001a0002a0004 | a0001c0001a0001c0015a0002c0002others(2): Show | a0001c0001t0001a0001c0015t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0074a0001c0001t0001g0082a0001c0001t0001g0159others(12): Show | 15 | 306 | 0.0490 | -8 | c.310 others(25): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CAPN3_chr15_42354501_42417317 | 42398590 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00733.hp2 HG01081.hp2 others(63): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0015others(10): Show | a0001c0001t0001a0001c0003t0001a0001c0015t0001others(10): Show | a0001c0001t0001g0053a0001c0001t0001g0217a0001c0001t0001g0224others(61): Show | 66 | 306 | 0.2157 | -8 | c.119 others(25): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CAPN3_chr15_42354501_42417317 | 42416912 | TTTAAACC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02723.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0284a0001c0001t0001g0285a0001c0001t0001g0286others(4): Show | 7 | 306 | 0.0229 | -8 | c.*51 others(19): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 4596 | chr15 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77079783 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02572.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0002a0001c0001t0029a0001c0001t0051others(3): Show | a0001c0001t0002g0011a0001c0001t0002g0236a0001c0001t0002g0238others(6): Show | 10 | 382 | 0.0262 | -8 | c.-35 others(25): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN5_chr11_77061971_77131155 | 77125614 | CTATATAT others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(74): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0020others(4): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0029others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0010a0001c0001t0002g0011others(69): Show | 77 | 382 | 0.2016 | -8 | c.*17 others(19): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 13/13 | 1763 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
CAPN7_chr3_15201246_15257916 | 15229561 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00642.hp1 others(41): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(30): Show | 44 | 376 | 0.1170 | -8 | c.938 others(23): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230751605 | GAAAGAGA others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00642.hp2 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0009others(4): Show | a0001c0001t0001a0001c0002t0001a0002c0009t0001others(5): Show | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0001t0001g0113others(13): Show | 16 | 394 | 0.0406 | -8 | c.214 others(25): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230751609 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG01256.hp2 HG01346.hp2 others(13): Show |
a0001a0011 | a0001c0001a0001c0002a0011c0016 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0206a0001c0001t0001g0207a0001c0001t0001g0208others(13): Show | 16 | 394 | 0.0406 | -8 | c.214 others(25): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |