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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1C_chr12_2047987_2702950 | 2450091 | CATAAG | C | intron_variant | MODIFIER | HG01496.hp2 HG03486.hp2 NA18906.hp2 |
a0001a0003 | a0001c0025a0001c0036a0003c0027 | a0001c0025t0007a0001c0036t0007a0003c0027t0011 | a0001c0025t0007g0014 a0001c0036t0007g0100 a0003c0027t0011g0012 |
3 | 104 | 0.0288 | -5 | c.617 others(20): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 4/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2569317 | TAATTC | T | intron_variant | MODIFIER | HG01496.hp1 HG01993.hp1 HG02273.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0015others(12): Show | a0001c0001t0004g0004 a0001c0001t0004g0042 a0001c0001t0005g0015 others(16): Show |
19 | 104 | 0.1827 | -5 | c.189 others(24): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 13/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2603778 | CAAAAG | C | intron_variant | MODIFIER | HG03195.hp2 NA18906.hp2 |
a0001 | a0001c0024a0001c0025 | a0001c0024t0003a0001c0025t0007 | a0001c0024t0003g0072 a0001c0025t0007g0014 |
2 | 104 | 0.0192 | -5 | c.296 others(24): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 22/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2646268 | GGTTTT | G | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0037a0001c0004t0004a0001c0004t0023 | a0001c0003t0037g0003 a0001c0004t0004g0084 a0001c0004t0004g0086 others(1): Show |
4 | 104 | 0.0385 | -5 | c.391 others(24): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 30/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2662268 | TAAATC | T | intron_variant | MODIFIER | HG01106.hp2 HG01358.hp1 HG01496.hp2 others(9): Show |
a0001a0003 | a0001c0004a0001c0007a0001c0011others(4): Show | a0001c0004t0004a0001c0004t0010a0001c0004t0023others(8): Show | a0001c0004t0004g0084 a0001c0004t0004g0086 a0001c0004t0010g0025 others(9): Show |
12 | 104 | 0.1154 | -5 | c.423 others(24): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 34/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53651366 | CTTTTT | C | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0015a0001c0002t0014others(1): Show | a0001c0001t0003g0116 a0001c0001t0015g0031 a0001c0002t0014g0021 others(2): Show |
5 | 40 | 0.1250 | -5 | c.623 others(20): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 4/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53691815 | ATATAT | A | intron_variant | MODIFIER | NA18962.hp1 NA18962.hp2 NA18982.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0005 | a0001c0001t0013g0181 a0001c0002t0005g0071 a0001c0002t0005g0103 others(2): Show |
5 | 208 | 0.0240 | -5 | c.122 others(26): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53691901 | ATATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(59): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0015 a0001c0001t0001g0136 a0001c0001t0001g0142 others(59): Show |
62 | 208 | 0.2981 | -5 | c.122 others(26): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53730245 | CTTTTG | C | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01074.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0021others(10): Show | a0001c0001t0002g0091 a0001c0001t0004g0137 a0001c0001t0004g0160 others(19): Show |
22 | 187 | 0.1176 | -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 | 53816840 | GTTTTT | G | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01081.hp2 others(11): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0005a0001c0002t0025a0001c0002t0081others(4): Show | a0001c0002t0005g0071 a0001c0002t0005g0097 a0001c0002t0005g0098 others(11): Show |
14 | 116 | 0.1207 | -5 | c.*54 others(16): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3108 | chr3 | TogoVar | |||||||
CACNA1E_chr1_181478517_181813084 | 181527883 | CTTTAT | C | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01358.hp2 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0012others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(17): Show | a0001c0001t0003g0130 a0001c0001t0005g0086 a0001c0001t0006g0050 others(22): Show |
25 | 204 | 0.1225 | -5 | c.512 others(24): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181625047 | CTTTTT | C | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01071.hp1 others(37): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0024others(27): Show | a0001c0001t0002g0126 a0001c0001t0002g0195 a0001c0001t0006g0131 others(37): Show |
40 | 152 | 0.2632 | -5 | c.952 others(24): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181691218 | ATTTAG | A | intron_variant | MODIFIER | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0024a0002c0002t0010others(6): Show | a0001c0001t0002g0195 a0001c0001t0024g0112 a0002c0002t0010g0024 others(6): Show |
9 | 204 | 0.0441 | -5 | c.105 others(26): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181743289 | CTCTTT | C | intron_variant | MODIFIER | HG03098.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0032 a0001c0004t0008g0122 |
2 | 204 | 0.0098 | -5 | c.371 others(24): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181783787 | AAGCTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(162): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0005others(24): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(98): Show | a0001c0001t0002g0001 a0001c0001t0002g0126 a0001c0001t0002g0195 others(162): Show |
165 | 204 | 0.8088 | -5 | c.547 others(20): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 40/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1G_chr17_50555715_50632474 | 50623263 | ATTTTT | A | intron_variant | MODIFIER | HG01069.hp2 HG01106.hp1 HG01243.hp2 others(12): Show |
a0002a0003a0004others(2): Show | a0002c0009a0002c0014a0002c0032others(5): Show | a0002c0009t0001a0002c0009t0002a0002c0014t0002others(6): Show | a0002c0009t0001g0123 a0002c0009t0002g0078 a0002c0009t0002g0083 others(12): Show |
15 | 52 | 0.2885 | -5 | c.606 others(22): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1179730 | CTTTTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(13): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0007others(11): Show | a0001c0001t0002a0002c0002t0001a0002c0007t0002others(12): Show | a0001c0001t0002g0194 a0002c0002t0001g0093 a0002c0002t0001g0208 others(13): Show |
16 | 283 | 0.0565 | -5 | c.300 others(24): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1207234 | GGGGCT | G | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp1 HG02647.hp2 others(3): Show |
a0002a0012a0051 | a0002c0063a0012c0024a0012c0062others(2): Show | a0002c0063t0001a0012c0024t0001a0012c0024t0002others(3): Show | a0002c0063t0001g0287 a0012c0024t0001g0303 a0012c0024t0002g0334 others(3): Show |
6 | 336 | 0.0179 | -5 | c.290 others(20): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39568093 | CCTTTA | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp1 others(56): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0009a0001c0014others(16): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0002g0117 a0001c0001t0002g0123 a0001c0001t0002g0145 others(56): Show |
59 | 234 | 0.2521 | -5 | c.-26 others(16): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2659 | chr22 | TogoVar | |||||||
CACNA1I_chr22_39565753_39694735 | 39595316 | AAAAAT | A | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02809.hp2 others(1): Show |
a0001a0006 | a0001c0001a0001c0030a0006c0012 | a0001c0001t0005a0001c0030t0004a0006c0012t0005 | a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0030t0004g0138 others(1): Show |
4 | 234 | 0.0171 | -5 | c.237 others(22): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39599618 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(92): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0009others(25): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(53): Show | a0001c0001t0002g0123 a0001c0001t0003g0041 a0001c0001t0003g0153 others(92): Show |
95 | 109 | 0.8716 | -5 | c.349 others(20): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201068231 | CTTTTT | C | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp1 HG01123.hp1 others(13): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0004a0001c0009others(7): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0001others(7): Show | a0001c0001t0001g0281 a0001c0004t0001g0040 a0001c0009t0001g0053 others(12): Show |
16 | 65 | 0.2462 | -5 | c.255 others(22): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201078517 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG01123.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0013a0001c0014others(6): Show | a0001c0004t0001a0001c0013t0001a0001c0014t0001others(6): Show | a0001c0004t0001g0029 a0001c0004t0001g0071 a0001c0004t0001g0157 others(11): Show |
15 | 25 | 0.6000 | -5 | c.139 others(22): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201103989 | GGCCCT | G | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(31): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0009others(19): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0001others(19): Show | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0079 others(28): Show |
34 | 312 | 0.1090 | -5 | c.258 others(22): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81955905 | TGGGGG | T | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01069.hp2 others(55): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0007 others(55): Show |
58 | 107 | 0.5421 | -5 | c.315 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82002021 | CAAAAA | C | intron_variant | MODIFIER | HG01071.hp2 HG01496.hp2 HG01975.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038 a0001c0001t0002g0094 a0001c0001t0002g0133 others(2): Show |
5 | 13 | 0.3846 | -5 | c.159 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 18/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82048146 | ACAGCT | A | intron_variant | MODIFIER | HG01123.hp1 HG01192.hp2 HG01243.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0077 others(21): Show |
24 | 142 | 0.1690 | -5 | c.880 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82053404 | TTAAAA | T | intron_variant | MODIFIER | HG01123.hp1 HG01192.hp2 HG01243.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0077 others(17): Show |
20 | 142 | 0.1408 | -5 | c.879 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82062729 | CTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0074 others(2): Show |
5 | 44 | 0.1136 | -5 | c.779 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 9/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82114127 | CAAATT | C | intron_variant | MODIFIER | HG01433.hp1 HG02717.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(1): Show | a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0003g0076 others(2): Show |
5 | 142 | 0.0352 | -5 | c.526 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82138425 | AGTTTT | A | intron_variant | MODIFIER | HG00621.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0093 a0001c0001t0007g0081 |
2 | 142 | 0.0141 | -5 | c.355 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82146983 | CAAAAA | C | intron_variant | MODIFIER | HG01123.hp1 HG02109.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0049 a0001c0001t0001g0087 a0001c0001t0002g0129 others(2): Show |
5 | 27 | 0.1852 | -5 | c.355 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82158196 | TTATAA | T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01891.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0005a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0007g0015 others(3): Show |
6 | 142 | 0.0423 | -5 | c.354 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82164816 | TTTTTC | T | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01192.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0002g0102 others(22): Show |
25 | 142 | 0.1761 | -5 | c.354 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82181041 | ATTTTT | A | intron_variant | MODIFIER | HG01123.hp2 HG02922.hp2 HG03239.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0047 a0001c0001t0003g0088 a0001c0001t0004g0021 others(3): Show |
6 | 14 | 0.4286 | -5 | c.295 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82222723 | ATCTTT | A | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01167.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0004g0002 others(5): Show |
8 | 142 | 0.0563 | -5 | c.295 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82229686 | TTTTTA | T | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01167.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0004g0002 others(5): Show |
8 | 75 | 0.1067 | -5 | c.295 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82322125 | CAAAAA | C | intron_variant | MODIFIER | HG01169.hp2 HG02630.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0002 | a0001c0001t0001g0058 a0001c0001t0012g0127 a0001c0002t0002g0108 others(2): Show |
5 | 30 | 0.1667 | -5 | c.294 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82324864 | TAAAGA | T | 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 | 82342053 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG02257.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(5): Show | a0001c0001t0003g0088 a0001c0001t0004g0042 a0001c0001t0004g0071 others(6): Show |
9 | 28 | 0.3214 | -5 | c.178 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 2/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82385647 | GTTGTT | G | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01261.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0037 a0001c0001t0001g0077 a0001c0001t0002g0141 others(14): Show |
17 | 141 | 0.1206 | -5 | c.96- others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82402705 | CAAAAA | C | intron_variant | MODIFIER | HG02809.hp1 HG02818.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(2): Show | a0001c0001t0002g0097 a0001c0001t0002g0102 a0001c0001t0006g0138 others(3): Show |
6 | 32 | 0.1875 | -5 | c.95+ others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50363989 | CCCCAT | C | 3_prime_UTR_variant | MODIFIER | NA18941.hp2 NA18942.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0208 a0001c0001t0009g0209 a0001c0001t0009g0210 |
3 | 232 | 0.0129 | -5 | c.*67 others(14): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 672 | chr3 | TogoVar | ||||||
CACNA2D2_chr3_50357613_50508634 | 50398554 | TCTGGC | T | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG02055.hp1 others(25): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0022a0001c0002t0001a0001c0002t0006others(6): Show | a0001c0001t0022g0097 a0001c0002t0001g0079 a0001c0002t0001g0083 others(25): Show |
28 | 232 | 0.1207 | -5 | c.406 others(22): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54303818 | GTTTTT | G | intron_variant | MODIFIER | HG01243.hp2 HG02572.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0005t0001 | a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0037 others(3): Show |
6 | 25 | 0.2400 | -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 | 54306059 | TTAATA | T | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG02572.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0037 others(9): Show |
12 | 116 | 0.1034 | -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 | 54318129 | AATCTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00673.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0007others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0118 others(4): Show |
7 | 116 | 0.0603 | -5 | c.205 others(22): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54405098 | TCTATA | T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00639.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(25): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0030 others(43): Show |
46 | 116 | 0.3966 | -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 | 54493060 | CTTTTT | C | intron_variant | MODIFIER | HG01258.hp1 HG02080.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0010others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0010t0003others(3): Show | a0001c0001t0001g0053 a0001c0003t0001g0101 a0001c0010t0003g0057 others(3): Show |
6 | 44 | 0.1364 | -5 | c.382 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54547672 | CTTTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG01934.hp2 HG02280.hp2 others(9): Show |
a0001 | a0001c0001a0001c0007a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(5): Show | a0001c0001t0001g0016 a0001c0001t0001g0053 a0001c0001t0001g0068 others(9): Show |
12 | 17 | 0.7059 | -5 | c.545 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |