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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1B_chr9_137872782_138129619 | 138090701 | C | CAAAAA | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp2 HG01256.hp1 others(19): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0012a0001c0032others(6): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0021others(9): Show | a0001c0002t0001g0036 a0001c0002t0001g0063 a0001c0002t0001g0064 others(19): Show |
22 | 95 | 0.2316 | 5 | c.509 others(24): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138107267 | T | TTTATG | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG00673.hp2 others(32): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0003a0001c0005others(10): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0030others(16): Show | a0001c0002t0001g0057 a0001c0002t0001g0073 a0001c0002t0008g0025 others(32): Show |
35 | 154 | 0.2273 | 5 | c.542 others(24): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | chr9 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 138128715 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02615.hp2 others(6): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0017a0002c0001others(4): Show | a0001c0002t0008a0001c0017t0006a0002c0001t0002others(4): Show | a0001c0002t0008g0065 a0001c0017t0006g0122 a0002c0001t0002g0175 others(6): Show |
9 | 66 | 0.1364 | 5 | c.*67 others(16): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 4097 | chr9 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2310352 | A | ATATAT | intron_variant | MODIFIER | HG01891.hp1 HG03017.hp1 HG03486.hp2 |
a0001 | a0001c0004a0001c0036a0001c0038 | a0001c0004t0010a0001c0036t0007a0001c0038t0041 | a0001c0004t0010g0025 a0001c0036t0007g0100 a0001c0038t0041g0047 |
3 | 46 | 0.0652 | 5 | c.478 others(26): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | chr12 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2323826 | G | GATCTC | intron_variant | MODIFIER | HG01993.hp1 HG02055.hp2 HG02273.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0004a0001c0001t0015a0001c0001t0043others(9): Show | a0001c0001t0004g0004 a0001c0001t0015g0016 a0001c0001t0043g0037 others(11): Show |
14 | 104 | 0.1346 | 5 | c.478 others(26): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | chr12 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2501209 | C | CAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02145.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0013a0001c0001t0015a0001c0002t0001others(5): Show | a0001c0001t0013g0013 a0001c0001t0015g0035 a0001c0002t0001g0091 others(5): Show |
8 | 34 | 0.2353 | 5 | c.111 others(24): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2652895 | C | CCCCCA | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp1 HG01071.hp2 others(32): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(22): Show | a0001c0001t0001g0088 a0001c0001t0002g0001 a0001c0001t0005g0015 others(32): Show |
35 | 104 | 0.3365 | 5 | c.407 others(22): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2682867 | A | ACACAC | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0029 | a0001c0001t0045a0001c0003t0001a0001c0003t0037others(1): Show | a0001c0001t0045g0052 a0001c0003t0001g0009 a0001c0003t0037g0003 others(1): Show |
4 | 73 | 0.0548 | 5 | c.557 others(22): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 43/46 | chr12 | TogoVar | |||||||
CACNA1D_chr3_53489611_53818733 | 53521781 | T | TACTTA | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 NA20129.hp1 others(1): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0028a0001c0002t0030a0001c0002t0034others(1): Show | a0001c0002t0028g0198 a0001c0002t0030g0196 a0001c0002t0034g0197 others(1): Show |
4 | 208 | 0.0192 | 5 | c.483 others(24): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53682365 | T | TAAAAA | intron_variant | MODIFIER | HG02258.hp1 HG02723.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0032a0001c0002t0006a0001c0002t0036 | a0001c0001t0032g0012 a0001c0002t0006g0011 a0001c0002t0006g0180 others(3): Show |
6 | 19 | 0.3158 | 5 | c.122 others(24): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53725004 | C | CTTTTT | intron_variant | MODIFIER | HG02040.hp2 HG02257.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0024a0001c0002t0005a0001c0002t0016others(2): Show | a0001c0001t0024g0068 a0001c0002t0005g0097 a0001c0002t0016g0115 others(2): Show |
5 | 20 | 0.2500 | 5 | c.216 others(24): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 15/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53730245 | C | CTTTTG | intron_variant | MODIFIER | HG01175.hp1 HG02145.hp2 HG02258.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0045a0001c0001t0066a0001c0002t0006others(4): Show | a0001c0001t0045g0119 a0001c0001t0066g0045 a0001c0002t0006g0180 others(4): Show |
7 | 172 | 0.0407 | 5 | c.228 others(22): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 16/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53767565 | C | CAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG01074.hp2 HG01169.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0041a0001c0001t0067a0001c0002t0007others(14): Show | a0001c0001t0041g0125 a0001c0001t0067g0001 a0001c0002t0007g0005 others(17): Show |
20 | 109 | 0.1835 | 5 | c.393 others(24): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181614194 | A | ATTTTC | intron_variant | MODIFIER | HG00673.hp1 HG01071.hp1 HG01074.hp2 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(23): Show | a0001c0001t0002g0001 a0001c0001t0006g0131 a0001c0001t0009g0135 others(30): Show |
33 | 204 | 0.1618 | 5 | c.951 others(24): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181615742 | C | CTCATA | intron_variant | MODIFIER | HG01074.hp2 HG01192.hp1 HG02257.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(7): Show | a0001c0001t0002g0001 a0001c0001t0010g0028 a0001c0001t0011g0038 others(7): Show |
10 | 38 | 0.2632 | 5 | c.951 others(24): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181615742 | C | CTCTTA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(163): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0005others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(97): Show | a0001c0001t0001g0166 a0001c0001t0002g0195 a0001c0001t0003g0044 others(163): Show |
166 | 194 | 0.8557 | 5 | c.951 others(24): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181616733 | A | AACAAG | intron_variant | MODIFIER | HG01243.hp1 HG02717.hp2 HG02976.hp1 others(1): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0013others(1): Show | a0001c0001t0002a0002c0002t0027a0005c0013t0020others(1): Show | a0001c0001t0002g0126 a0002c0002t0027g0036 a0005c0013t0020g0194 others(1): Show |
4 | 204 | 0.0196 | 5 | c.952 others(24): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | chr1 | TogoVar | |||||||
CACNA1E_chr1_181478517_181813084 | 181641703 | G | GTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG01169.hp1 others(2): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0024a0001c0004t0002a0002c0002t0027others(2): Show | a0001c0001t0024g0112 a0001c0004t0002g0101 a0002c0002t0027g0036 others(2): Show |
5 | 113 | 0.0442 | 5 | c.952 others(22): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181790811 | C | CTTAGT | intron_variant | MODIFIER | HG00408.hp1 HG02132.hp1 HG02135.hp1 others(11): Show |
a0001 | a0001c0001a0001c0026 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0126 a0001c0001t0003g0130 a0001c0001t0003g0134 others(11): Show |
14 | 204 | 0.0686 | 5 | c.589 others(22): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 44/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39598288 | C | CGCCCT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(122): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0009others(31): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(61): Show | a0001c0001t0002g0123 a0001c0001t0002g0163 a0001c0001t0003g0041 others(122): Show |
125 | 232 | 0.5388 | 5 | c.348 others(18): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39598941 | G | GTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01255.hp2 HG01261.hp1 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0030a0002c0003others(7): Show | a0001c0001t0005a0001c0001t0008a0001c0030t0004others(10): Show | a0001c0001t0005g0050 a0001c0001t0005g0118 a0001c0001t0008g0008 others(12): Show |
15 | 30 | 0.5000 | 5 | c.348 others(20): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39601903 | C | CTTCCT | intron_variant | MODIFIER | HG02922.hp1 NA19240.hp2 NA21309.hp2 |
a0001a0002 | a0001c0027a0002c0025 | a0001c0027t0015a0002c0025t0001 | a0001c0027t0015g0091 a0002c0025t0001g0090 a0002c0025t0001g0092 |
3 | 221 | 0.0136 | 5 | c.482 others(22): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201035818 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG01081.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0055 a0001c0001t0001g0079 a0001c0001t0001g0183 others(10): Show |
13 | 22 | 0.5909 | 5 | c.*40 others(16): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3693 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201046174 | A | ATTTAT | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG01070.hp1 others(54): Show |
a0001a0002a0005others(14): Show | a0001c0007a0001c0009a0001c0014others(34): Show | a0001c0007t0001a0001c0007t0002a0001c0009t0001others(37): Show | a0001c0007t0001g0097 a0001c0007t0001g0111 a0001c0007t0001g0142 others(52): Show |
57 | 270 | 0.2111 | 5 | c.466 others(22): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201113774 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01261.hp2 HG02055.hp1 HG02080.hp2 others(3): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0017 a0001c0002t0001g0178 a0001c0004t0001g0029 others(3): Show |
6 | 101 | 0.0594 | 5 | c.-14 others(16): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1349 | chr1 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81966202 | T | TAAGAA | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(117): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0077 others(117): Show |
120 | 142 | 0.8451 | 5 | c.250 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 31/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81995800 | A | AAAAAT | intron_variant | MODIFIER | HG02257.hp2 HG02809.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0002a0001c0004t0003 | a0001c0003t0001g0011 a0001c0003t0001g0026 a0001c0003t0001g0061 others(3): Show |
6 | 142 | 0.0423 | 5 | c.166 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 19/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82102429 | C | CATAAT | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00642.hp1 others(56): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0037 others(56): Show |
59 | 142 | 0.4155 | 5 | c.526 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82115775 | C | CCTTTA | intron_variant | MODIFIER | HG01433.hp1 HG02572.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0003g0076 others(4): Show |
7 | 142 | 0.0493 | 5 | c.526 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82140954 | T | TTAAAA | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG01884.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0068 a0001c0001t0004g0031 a0001c0001t0008g0043 others(5): Show |
8 | 91 | 0.0879 | 5 | c.355 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82174042 | C | CAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG01496.hp1 HG02027.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(6): Show | a0001c0001t0003g0051 a0001c0001t0004g0050 a0001c0001t0010g0089 others(9): Show |
12 | 58 | 0.2069 | 5 | c.295 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82211872 | T | TTTTTG | intron_variant | MODIFIER | HG02630.hp2 HG02818.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0011 | a0001c0001t0002g0097 a0001c0001t0009g0027 a0001c0001t0011g0066 |
3 | 141 | 0.0213 | 5 | c.295 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82229686 | T | TTTTTA | intron_variant | MODIFIER | HG00621.hp1 HG01496.hp1 HG01975.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0133 a0001c0001t0003g0051 a0001c0001t0004g0050 others(9): Show |
12 | 79 | 0.1519 | 5 | c.295 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82258817 | C | CTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01123.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(30): Show |
33 | 51 | 0.6471 | 5 | c.294 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82287997 | A | ATTTTT | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0077 a0001c0001t0003g0062 others(5): Show |
8 | 41 | 0.1951 | 5 | c.294 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82297072 | C | CAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02970.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0003g0062 a0001c0001t0003g0086 a0001c0001t0004g0021 others(5): Show |
8 | 25 | 0.3200 | 5 | c.294 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82305571 | T | TTGCCC | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01258.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0010 a0001c0001t0003g0034 a0001c0001t0004g0046 others(1): Show |
4 | 142 | 0.0282 | 5 | c.294 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82432037 | T | TAAAAA | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG02559.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0070 a0001c0001t0003g0076 a0001c0001t0004g0056 others(8): Show |
11 | 53 | 0.2075 | 5 | c.95+ others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50431980 | C | CAAAAA | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02486.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0002t0001a0001c0002t0006others(1): Show | a0001c0001t0019g0031 a0001c0002t0001g0083 a0001c0002t0001g0084 others(5): Show |
8 | 74 | 0.1081 | 5 | c.405 others(22): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54226312 | C | CTTTTT | intron_variant | MODIFIER | HG01123.hp1 HG01934.hp2 HG02080.hp2 others(1): Show |
a0001 | a0001c0002a0001c0028a0001c0033others(1): Show | a0001c0002t0001a0001c0028t0001a0001c0033t0001others(1): Show | a0001c0002t0001g0004 a0001c0028t0001g0089 a0001c0033t0001g0114 others(1): Show |
4 | 34 | 0.1176 | 5 | c.205 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54242273 | C | CAAAAA | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0002a0001c0014a0001c0036others(1): Show | a0001c0002t0001a0001c0014t0001a0001c0036t0005others(1): Show | a0001c0002t0001g0060 a0001c0002t0001g0070 a0001c0014t0001g0071 others(2): Show |
5 | 34 | 0.1471 | 5 | c.205 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54394318 | A | ATTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01106.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0003others(11): Show | a0001c0001t0001g0010 a0001c0001t0001g0068 a0001c0001t0001g0118 others(14): Show |
17 | 84 | 0.2024 | 5 | c.381 others(22): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54405074 | T | TCTATA | intron_variant | MODIFIER | HG00673.hp1 HG02976.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0013t0001others(2): Show | a0001c0001t0001g0083 a0001c0002t0001g0039 a0001c0013t0001g0093 others(2): Show |
5 | 116 | 0.0431 | 5 | c.381 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54586262 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01106.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0001t0001g0107 others(6): Show |
9 | 31 | 0.2903 | 5 | c.963 others(22): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54598307 | C | CAAAAA | intron_variant | MODIFIER | HG01123.hp1 HG01255.hp1 HG01934.hp1 others(5): Show |
a0001 | a0001c0002a0001c0004a0001c0009others(2): Show | a0001c0002t0001a0001c0004t0001a0001c0009t0008others(2): Show | a0001c0002t0001g0004 a0001c0002t0001g0012 a0001c0002t0001g0081 others(5): Show |
8 | 30 | 0.2667 | 5 | c.963 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54681382 | C | CAAAAA | intron_variant | MODIFIER | HG02300.hp1 NA19240.hp1 NA20300.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0002t0001g0040 others(2): Show |
5 | 17 | 0.2941 | 5 | c.116 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54687121 | C | CTTTTT | intron_variant | MODIFIER | HG02965.hp2 HG03041.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0013others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0013t0001others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0003t0001g0042 others(2): Show |
5 | 58 | 0.0862 | 5 | c.116 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54689010 | A | AAAGAG | intron_variant | MODIFIER | HG01123.hp2 HG01258.hp1 HG01884.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0012a0001c0003t0001a0001c0003t0006others(8): Show | a0001c0001t0012g0063 a0001c0003t0001g0038 a0001c0003t0006g0064 others(8): Show |
11 | 22 | 0.5000 | 5 | c.116 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54763761 | A | ATTGTG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(22): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0006others(9): Show | a0001c0003t0001a0001c0003t0006a0001c0004t0001others(11): Show | a0001c0003t0001g0011 a0001c0003t0001g0026 a0001c0003t0001g0038 others(22): Show |
25 | 116 | 0.2155 | 5 | c.124 others(22): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54827055 | T | TGCTAC | intron_variant | MODIFIER | HG02258.hp1 HG02976.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0012a0001c0003t0001a0001c0005t0003others(1): Show | a0001c0001t0012g0063 a0001c0003t0001g0042 a0001c0005t0003g0055 others(1): Show |
4 | 116 | 0.0345 | 5 | c.139 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |