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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1C_chr12_2047987_2702950 | 2602630 | TTGTGTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01071.hp2 others(36): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0029a0001c0001t0002g0049a0001c0001t0004g0008others(36): Show | 39 | 104 | 0.3750 | -6 | c.296 others(23): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 22/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2646768 | AAGAGAG | A | intron_variant | MODIFIER | HG01358.hp2 HG01496.hp2 HG02055.hp1 others(52): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0029a0001c0001t0002g0027a0001c0001t0003g0063others(52): Show | 55 | 104 | 0.5289 | -6 | c.391 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 30/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2661310 | CACACAA | C | intron_variant | MODIFIER | HG00140.hp1 HG01496.hp1 HG01993.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0022a0001c0003t0008others(4): Show | a0001c0001t0002g0049a0001c0001t0002g0096a0001c0001t0022g0058others(6): Show | 9 | 104 | 0.0865 | -6 | c.423 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 34/46 | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2663735 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp1 HG01071.hp2 others(20): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(11): Show | a0001c0001t0001g0088a0001c0001t0002g0001a0001c0001t0017g0004others(20): Show | 23 | 104 | 0.2212 | -6 | c.423 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53520894 | CTTTTCT | C | intron_variant | MODIFIER | HG00323.hp2 HG01175.hp2 HG02071.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(15): Show | a0001c0001t0001g0175a0001c0001t0002g0061a0001c0001t0002g0122others(16): Show | 19 | 210 | 0.0905 | -6 | c.483 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53586276 | CTGTGTG | C | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02559.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0068a0001c0002t0006a0001c0002t0010others(3): Show | a0001c0001t0068g0001a0001c0002t0006g0011a0001c0002t0006g0180others(7): Show | 10 | 210 | 0.0476 | -6 | c.484 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53648829 | AACACAC | A | intron_variant | MODIFIER | HG00280.hp2 HG02572.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0007 | a0001c0002t0007a0001c0002t0054a0001c0003t0001others(1): Show | a0001c0002t0007g0006a0001c0002t0054g0005a0001c0003t0001g0161others(1): Show | 4 | 210 | 0.0191 | -6 | c.484 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53651366 | CTTTTTT | C | intron_variant | MODIFIER | HG02486.hp2 HG02723.hp1 HG03471.hp1 others(2): Show |
a0001 | a0001c0009a0001c0023 | a0001c0009t0017a0001c0009t0029a0001c0009t0056others(2): Show | a0001c0009t0017g0085a0001c0009t0029g0185a0001c0009t0056g0184others(2): Show | 5 | 210 | 0.0238 | -6 | c.623 others(21): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 4/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53672758 | CTGTGTG | C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01175.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0032others(9): Show | a0001c0001t0003g0081a0001c0001t0004g0137a0001c0001t0032g0012others(10): Show | 13 | 210 | 0.0619 | -6 | c.111 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 7/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53672814 | GTGTGTA | G | intron_variant | MODIFIER | HG02723.hp1 HG03471.hp1 NA19240.hp1 |
a0001 | a0001c0009 | a0001c0009t0017a0001c0009t0029a0001c0009t0056 | a0001c0009t0017g0085a0001c0009t0029g0185a0001c0009t0056g0184 | 3 | 210 | 0.0143 | -6 | c.111 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 7/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53681904 | GAGGTAC | G | intron_variant | MODIFIER | HG01070.hp1 HG02109.hp1 HG02486.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0003a0001c0001t0014a0001c0002t0007others(12): Show | a0001c0001t0003g0113a0001c0001t0014g0031a0001c0002t0007g0006others(15): Show | 18 | 210 | 0.0857 | -6 | c.122 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53713496 | GTGTGTA | G | intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01074.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0021others(8): Show | a0001c0001t0002g0091a0001c0001t0004g0137a0001c0001t0004g0207others(15): Show | 18 | 210 | 0.0857 | -6 | c.139 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 9/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53717401 | TCCAGCA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00639.hp1 others(13): Show |
a0001 | a0001c0004a0001c0006a0001c0008others(1): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0003others(10): Show | a0001c0004t0001g0134a0001c0004t0001g0154a0001c0004t0002g0078others(13): Show | 16 | 210 | 0.0762 | -6 | c.139 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 9/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53734016 | GTATATA | G | intron_variant | MODIFIER | HG00735.hp1 HG01169.hp2 HG01891.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0017a0001c0001t0046a0001c0002t0007others(8): Show | a0001c0001t0017g0110a0001c0001t0046g0119a0001c0002t0007g0006others(10): Show | 13 | 210 | 0.0619 | -6 | c.268 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 20/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53782260 | GTGTGTA | G | intron_variant | MODIFIER | HG03516.hp1 NA20300.hp2 |
a0001 | a0001c0008a0001c0021 | a0001c0008t0035a0001c0021t0035 | a0001c0008t0035g0010a0001c0021t0035g0205 | 2 | 210 | 0.0095 | -6 | c.485 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 40/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53782262 | GTGTATA | G | intron_variant | MODIFIER | HG01169.hp2 HG02896.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0007a0001c0005t0040 | a0001c0002t0007g0035a0001c0005t0040g0108 | 2 | 210 | 0.0095 | -6 | c.485 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 40/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53788106 | AGAATAT | A | intron_variant | MODIFIER | HG02886.hp2 NA18994.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0036a0001c0004t0011 | a0001c0002t0036g0033a0001c0004t0011g0145 | 2 | 210 | 0.0095 | -6 | c.498 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 41/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53798322 | TGTGTGC | T | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 NA18977.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0041a0001c0002t0028others(2): Show | a0001c0001t0002g0064a0001c0001t0041g0125a0001c0002t0028g0198others(2): Show | 5 | 210 | 0.0238 | -6 | c.498 others(25): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 41/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53810781 | AAAAAAC | A | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0002a0001c0023 | a0001c0002t0007a0001c0002t0009a0001c0002t0034others(1): Show | a0001c0002t0007g0006a0001c0002t0007g0035a0001c0002t0009g0210others(2): Show | 5 | 210 | 0.0238 | -6 | c.625 others(23): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 48/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181481335 | TACACAC | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00673.hp1 NA18983.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0006a0002c0002t0013a0002c0002t0014others(2): Show | a0001c0001t0006g0123a0002c0002t0013g0162a0002c0002t0014g0125others(2): Show | 5 | 206 | 0.0243 | -6 | c.-24 others(17): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 2181 | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181516343 | CCACACA | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00673.hp1 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0015others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(18): Show | a0001c0001t0002g0126a0001c0001t0003g0130a0001c0001t0003g0134others(23): Show | 26 | 206 | 0.1262 | -6 | c.512 others(23): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181583103 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0166a0001c0001t0003g0044a0001c0001t0003g0134others(10): Show | 13 | 206 | 0.0631 | -6 | c.951 others(23): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181596557 | CGTGTGT | C | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02615.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0002a0001c0001t0012a0001c0004t0008others(6): Show | a0001c0001t0002g0126a0001c0001t0012g0100a0001c0004t0008g0032others(8): Show | 11 | 206 | 0.0534 | -6 | c.951 others(25): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181685230 | GTTTTTT | G | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(19): Show |
a0001a0002a0009 | a0001c0001a0001c0004a0001c0011others(4): Show | a0001c0001t0016a0001c0001t0063a0001c0001t0070others(13): Show | a0001c0001t0016g0181a0001c0001t0063g0026a0001c0001t0070g0037others(19): Show | 22 | 206 | 0.1068 | -6 | c.105 others(27): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181688991 | TTTTAAC | T | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(2): Show |
a0001a0009 | a0001c0004a0009c0021 | a0001c0004t0002a0001c0004t0004a0009c0021t0002 | a0001c0004t0002g0101a0001c0004t0002g0160a0001c0004t0002g0199others(2): Show | 5 | 206 | 0.0243 | -6 | c.105 others(27): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181718611 | AACACAC | A | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00597.hp2 others(23): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0166a0001c0001t0003g0134a0001c0001t0004g0146others(23): Show | 26 | 206 | 0.1262 | -6 | c.163 others(23): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181779819 | TACACAC | T | intron_variant | MODIFIER | HG00597.hp2 NA18968.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0003 | a0001c0001t0005g0089a0002c0002t0003g0051 | 2 | 206 | 0.0097 | -6 | c.526 others(25): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1F_chrX_49200063_49238340 | 49200490 | GTTTGTT | G | downstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 290 | 0.0035 | -6 | c.*46 others(17): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 4572 | chrX | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1169212 | AACGTGG | A | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG03579.hp2 |
a0001a0003a0030 | a0001c0001a0003c0028a0030c0067 | a0001c0001t0001a0003c0028t0004a0030c0067t0020 | a0001c0001t0001g0322a0003c0028t0004g0325a0030c0067t0020g0323 | 3 | 338 | 0.0089 | -6 | c.299 others(25): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39566059 | ATGGTGG | A | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0001c0014others(5): Show | a0001c0001t0008a0001c0009t0004a0001c0009t0007others(7): Show | a0001c0001t0008g0131a0001c0009t0004g0132a0001c0009t0007g0135others(8): Show | 11 | 236 | 0.0466 | -6 | c.-46 others(17): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4693 | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39574664 | ATAGTAG | A | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02559.hp1 others(9): Show |
a0005a0009a0013 | a0005c0007a0009c0016a0013c0052 | a0005c0007t0006a0005c0007t0060a0009c0016t0005others(3): Show | a0005c0007t0006g0096a0005c0007t0006g0097a0005c0007t0006g0098others(9): Show | 12 | 236 | 0.0509 | -6 | c.236 others(23): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39599618 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00639.hp1 others(37): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0009others(15): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0002g0162a0001c0001t0003g0122a0001c0001t0003g0151others(37): Show | 40 | 236 | 0.1695 | -6 | c.349 others(21): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39601961 | CTTTCTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(23): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0002c0019others(9): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0036others(12): Show | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0036g0086others(23): Show | 26 | 236 | 0.1102 | -6 | c.482 others(23): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39646527 | ATCCCTG | A | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02559.hp2 others(4): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0005a0001c0001t0052a0006c0012t0005 | a0001c0001t0005g0007a0001c0001t0005g0050a0001c0001t0005g0118others(4): Show | 7 | 236 | 0.0297 | -6 | c.115 others(21): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39686627 | CATATAT | C | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG01934.hp2 HG02055.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0022others(5): Show | a0001c0001t0008a0001c0001t0021a0001c0002t0031others(7): Show | a0001c0001t0008g0008a0001c0001t0008g0131a0001c0001t0008g0139others(13): Show | 16 | 236 | 0.0678 | -6 | c.*24 others(15): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 37/37 | 243 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
CACNA1S_chr1_201034512_201117426 | 201035818 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01928.hp2 HG01952.hp2 others(7): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0128a0001c0001t0001g0201a0001c0001t0001g0217others(7): Show | 10 | 314 | 0.0319 | -6 | c.*40 others(17): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3693 | chr1 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201045987 | CAAAATA | C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(47): Show |
a0002a0007a0010others(9): Show | a0002c0008a0002c0010a0002c0012others(22): Show | a0002c0008t0001a0002c0010t0001a0002c0012t0001others(23): Show | a0002c0008t0001g0013a0002c0008t0001g0038a0002c0008t0001g0041others(46): Show | 50 | 314 | 0.1592 | -6 | c.466 others(25): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201068231 | CTTTTTT | C | intron_variant | MODIFIER | HG02451.hp1 HG02970.hp1 HG03209.hp2 others(3): Show |
a0001a0024 | a0001c0009a0001c0017a0024c0061 | a0001c0009t0001a0001c0017t0001a0024c0061t0001 | a0001c0009t0001g0006a0001c0009t0001g0264a0001c0009t0001g0265others(2): Show | 6 | 314 | 0.0191 | -6 | c.255 others(23): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81978816 | ATATATT | A | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00735.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0077a0001c0001t0002g0103a0001c0001t0002g0143others(33): Show | 36 | 144 | 0.2500 | -6 | c.195 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 24/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82022222 | AACACAC | A | intron_variant | MODIFIER | HG01258.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0022 | a0001c0001t0003g0005a0001c0001t0022g0117 | 2 | 144 | 0.0139 | -6 | c.114 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 12/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82045250 | TAAATAA | T | intron_variant | MODIFIER | HG02886.hp2 HG02895.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011 | a0001c0001t0008g0023a0001c0001t0008g0083a0001c0001t0011g0028 | 3 | 144 | 0.0208 | -6 | c.880 others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82075707 | GTTTATA | G | intron_variant | MODIFIER | HG01433.hp1 HG02717.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0020a0001c0002t0001 | a0001c0001t0001g0077a0001c0001t0020g0114a0001c0002t0001g0026 | 3 | 144 | 0.0208 | -6 | c.658 others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 7/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82080150 | CCTATAT | C | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00639.hp2 others(112): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(112): Show | 115 | 144 | 0.7986 | -6 | c.658 others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 7/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82099422 | CTTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02970.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007 | a0001c0001t0002g0141a0001c0001t0006g0098a0001c0001t0006g0138others(3): Show | 6 | 144 | 0.0417 | -6 | c.527 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82105092 | AAAATAT | A | intron_variant | MODIFIER | HG01123.hp1 HG02109.hp2 HG02572.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0049a0001c0001t0003g0086a0001c0001t0009g0065others(1): Show | 4 | 144 | 0.0278 | -6 | c.526 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82111292 | GTATATA | G | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp2 HG01069.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0058others(29): Show | 32 | 144 | 0.2222 | -6 | c.526 others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82111422 | ATGTGTG | A | intron_variant | MODIFIER | HG01433.hp1 HG03471.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0020 | a0001c0001t0001g0077a0001c0001t0003g0076a0001c0001t0020g0114 | 3 | 144 | 0.0208 | -6 | c.526 others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82140964 | AAAAAAG | A | intron_variant | MODIFIER | HG00735.hp2 HG01071.hp1 HG01167.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0070others(22): Show | 25 | 144 | 0.1736 | -6 | c.355 others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82192399 | AATATAT | A | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00639.hp2 others(70): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(70): Show | 73 | 144 | 0.5069 | -6 | c.295 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82192460 | TTGTGTG | T | intron_variant | MODIFIER | HG01074.hp1 HG01192.hp1 HG01433.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0077a0001c0001t0005g0101a0001c0001t0005g0110others(4): Show | 7 | 144 | 0.0486 | -6 | c.295 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar |