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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1F_chrX_49200063_49238340 | 49235857 | ACACACAC others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 290 | 0.0035 | -8 | c.-25 others(19): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 2518 | chrX | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185701 | GGTCGGCG others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG02109.hp1 HG02258.hp1 others(17): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0008others(12): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0026others(15): Show | a0001c0001t0001g0281a0002c0002t0001g0018a0002c0002t0001g0042others(17): Show | 20 | 338 | 0.0592 | -8 | c.300 others(25): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185756 | GGTCGGCG others(1): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG02486.hp2 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0007a0002c0008others(6): Show | a0001c0001t0002a0002c0007t0010a0002c0008t0019others(7): Show | a0001c0001t0002g0127a0002c0007t0010g0062a0002c0008t0019g0031others(7): Show | 10 | 338 | 0.0296 | -8 | c.300 others(25): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185810 | GGTCGGCG others(1): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG02818.hp2 HG02970.hp2 others(1): Show |
a0002 | a0002c0007a0002c0008a0002c0012 | a0002c0007t0002a0002c0008t0019a0002c0012t0001others(1): Show | a0002c0007t0002g0237a0002c0008t0019g0031a0002c0012t0001g0318others(1): Show | 4 | 338 | 0.0118 | -8 | c.300 others(25): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39570246 | CCCTTCCT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(59): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0027others(19): Show | a0001c0001t0003a0001c0001t0036a0001c0002t0002others(32): Show | a0001c0001t0003g0173a0001c0001t0036g0086a0001c0002t0002g0179others(59): Show | 62 | 236 | 0.2627 | -8 | c.-50 others(17): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 506 | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39583031 | ACCATCCA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(47): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0009a0001c0014others(14): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(28): Show | a0001c0001t0003g0023a0001c0001t0004g0065a0001c0001t0005g0050others(47): Show | 50 | 236 | 0.2119 | -8 | c.236 others(27): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39583365 | TATCCATC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(194): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0001c0009others(41): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(99): Show | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0023others(194): Show | 197 | 236 | 0.8348 | -8 | c.236 others(27): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39588365 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(83): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0009others(20): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(39): Show | a0001c0001t0002g0123a0001c0001t0002g0162a0001c0001t0003g0041others(83): Show | 86 | 236 | 0.3644 | -8 | c.237 others(25): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39620012 | TATCCATC others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG03195.hp2 |
a0001a0002 | a0001c0026a0002c0013 | a0001c0026t0056a0002c0013t0001 | a0001c0026t0056g0071a0002c0013t0001g0140 | 2 | 236 | 0.0085 | -8 | c.580 others(23): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39620237 | GTCCATCC others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01361.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0014a0001c0020a0001c0026others(5): Show | a0001c0014t0012a0001c0020t0001a0001c0026t0056others(5): Show | a0001c0014t0012g0126a0001c0020t0001g0176a0001c0026t0056g0071others(6): Show | 9 | 236 | 0.0381 | -8 | c.580 others(23): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39620273 | ATCCATAC others(1): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01099.hp2 NA18522.hp1 |
a0001a0024 | a0001c0001a0001c0002a0024c0035 | a0001c0001t0057a0001c0002t0004a0024c0035t0044 | a0001c0001t0057g0067a0001c0002t0004g0190a0024c0035t0044g0167 | 3 | 236 | 0.0127 | -8 | c.580 others(23): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1S_chr1_201034512_201117426 | 201035818 | CTTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01074.hp2 HG02109.hp1 HG02257.hp1 others(11): Show |
a0002a0005a0007others(1): Show | a0002c0008a0002c0012a0002c0023others(8): Show | a0002c0008t0001a0002c0012t0001a0002c0023t0001others(9): Show | a0002c0008t0001g0220a0002c0008t0001g0221a0002c0008t0001g0250others(11): Show | 14 | 314 | 0.0446 | -8 | c.*40 others(19): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3693 | chr1 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201045734 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02895.hp2 HG02897.hp2 others(4): Show |
a0001a0016a0017 | a0001c0004a0001c0009a0001c0033others(2): Show | a0001c0004t0001a0001c0009t0001a0001c0033t0001others(2): Show | a0001c0004t0001g0040a0001c0009t0001g0053a0001c0033t0001g0082others(4): Show | 7 | 314 | 0.0223 | -8 | c.466 others(27): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81960719 | CTTACTTC others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01071.hp1 others(29): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0003a0001c0001t0005a0001c0001t0015others(4): Show | a0001c0001t0003g0003a0001c0001t0003g0005a0001c0001t0003g0007others(29): Show | 32 | 144 | 0.2222 | -8 | c.296 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 36/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81978814 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG01069.hp2 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0003g0008a0001c0001t0003g0013a0001c0001t0003g0016others(58): Show | 61 | 144 | 0.4236 | -8 | c.195 others(27): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 24/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82100817 | GAACTTTT others(1): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0087 | 2 | 144 | 0.0139 | -8 | c.527 others(27): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82111292 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01433.hp1 HG02717.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(1): Show | a0001c0001t0001g0077a0001c0001t0001g0087a0001c0001t0003g0076others(2): Show | 5 | 144 | 0.0347 | -8 | c.526 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82130791 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01071.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0070others(25): Show | 28 | 144 | 0.1944 | -8 | c.396 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 5/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82138426 | GTTTTGTT others(1): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG01167.hp1 HG01169.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0003g0003others(14): Show | 17 | 144 | 0.1181 | -8 | c.355 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82146983 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp2 HG01169.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0039a0001c0001t0003g0051a0001c0001t0003g0052others(18): Show | 21 | 144 | 0.1458 | -8 | c.355 others(27): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82150274 | AACAACAA others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0003g0062a0001c0001t0004g0079a0001c0001t0007g0078others(2): Show | 5 | 144 | 0.0347 | -8 | c.355 others(27): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82158338 | ATTAGCAC others(1): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0012 | a0001c0001t0004g0079a0001c0001t0005g0126a0001c0001t0012g0127 | 3 | 144 | 0.0208 | -8 | c.354 others(27): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82186247 | GAAGGAAG others(1): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0087a0001c0001t0008g0073 | 2 | 144 | 0.0139 | -8 | c.295 others(27): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82186255 | AAAGGAAG others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01074.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(1): Show | a0001c0001t0001g0037a0001c0001t0004g0002a0001c0001t0018g0135others(1): Show | 4 | 144 | 0.0278 | -8 | c.295 others(27): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82192460 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01074.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0010a0001c0001t0001g0037a0001c0001t0001g0070others(14): Show | 17 | 144 | 0.1181 | -8 | c.295 others(27): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82217394 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG03098.hp2 NA18960.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0006a0001c0002t0002 | a0001c0001t0005g0111a0001c0001t0006g0138a0001c0002t0002g0095others(1): Show | 4 | 144 | 0.0278 | -8 | c.295 others(27): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82274855 | TATGAATG others(1): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02683.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0139a0001c0002t0001g0030 | 2 | 144 | 0.0139 | -8 | c.294 others(27): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82332510 | TAAAGAAA others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0034a0001c0002t0001g0033 | 2 | 144 | 0.0139 | -8 | c.294 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82345681 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0077a0001c0001t0003g0062a0001c0001t0007g0078others(2): Show | 5 | 144 | 0.0347 | -8 | c.177 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 2/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82378938 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01192.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0010a0001c0001t0001g0058a0001c0001t0003g0003others(12): Show | 15 | 144 | 0.1042 | -8 | c.96- others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82393031 | GAGGAAGG others(1): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG02922.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0003g0088a0001c0001t0005g0110a0001c0001t0006g0138others(1): Show | 4 | 144 | 0.0278 | -8 | c.96- others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82393083 | AAGGCAGG others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01192.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0087others(9): Show | 12 | 144 | 0.0833 | -8 | c.96- others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82426138 | TATAAATA others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00642.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0002g0129others(21): Show | 24 | 144 | 0.1667 | -8 | c.95+ others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82426174 | AATAAATA others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02698.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0087others(8): Show | 11 | 144 | 0.0764 | -8 | c.95+ others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D2_chr3_50357613_50508634 | 50424915 | CCACCCTA others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0009 | a0001c0001t0022a0002c0003t0003a0002c0003t0012others(2): Show | a0001c0001t0022g0097a0002c0003t0003g0032a0002c0003t0003g0035others(14): Show | 17 | 234 | 0.0727 | -8 | c.405 others(25): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | TogoVar | ||||||
CACNA2D2_chr3_50357613_50508634 | 50468380 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01496.hp1 HG01981.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0082a0001c0001t0001g0106a0001c0001t0001g0123others(9): Show | 12 | 234 | 0.0513 | -8 | c.288 others(25): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54141086 | TGCGCGCG others(1): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0068a0001c0003t0001g0094a0001c0004t0001g0095others(1): Show | 4 | 118 | 0.0339 | -8 | c.204 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54149883 | GTCTCTCT others(1): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG02630.hp2 HG06807.hp1 |
a0001 | a0001c0002a0001c0008a0001c0010 | a0001c0002t0001a0001c0008t0001a0001c0010t0003 | a0001c0002t0001g0012a0001c0008t0001g0092a0001c0010t0003g0057 | 3 | 118 | 0.0254 | -8 | c.204 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54150822 | TGATGGAT others(1): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0068a0001c0003t0001g0094a0001c0004t0001g0095others(1): Show | 4 | 118 | 0.0339 | -8 | c.204 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54188228 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01123.hp1 HG01175.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0089a0001c0001t0003g0058others(3): Show | 6 | 118 | 0.0509 | -8 | c.204 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54210379 | GAATTAGC others(1): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 |
a0001 | a0001c0001a0001c0022 | a0001c0001t0001a0001c0022t0001 | a0001c0001t0001g0033a0001c0022t0001g0041 | 2 | 118 | 0.0170 | -8 | c.204 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54263492 | CAGTGAGG others(1): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0010others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0010t0003others(2): Show | a0001c0002t0001g0040a0001c0003t0001g0038a0001c0010t0003g0057others(2): Show | 5 | 118 | 0.0424 | -8 | c.205 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54280049 | CTTGTTTG others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01175.hp1 HG04115.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0012 | a0001c0001t0001a0001c0003t0001a0001c0012t0005 | a0001c0001t0001g0010a0001c0001t0001g0107a0001c0003t0001g0011others(1): Show | 4 | 118 | 0.0339 | -8 | c.205 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54280068 | GTTTATTT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00673.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0006a0001c0001t0001g0029a0001c0001t0001g0030others(20): Show | 23 | 118 | 0.1949 | -8 | c.205 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54319157 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG01175.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0012t0005others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0061a0001c0001t0001g0107others(4): Show | 7 | 118 | 0.0593 | -8 | c.205 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54330210 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0006a0001c0001t0001g0024a0001c0001t0001g0030others(40): Show | 43 | 118 | 0.3644 | -8 | c.321 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54338467 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp2 HG03239.hp2 |
a0001 | a0001c0003a0001c0008a0001c0027 | a0001c0003t0006a0001c0008t0001a0001c0027t0001 | a0001c0003t0006g0064a0001c0008t0001g0074a0001c0027t0001g0014 | 3 | 118 | 0.0254 | -8 | c.321 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54350978 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG02630.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0005t0001 | a0001c0001t0001g0033a0001c0001t0001g0118a0001c0003t0001g0110others(1): Show | 4 | 118 | 0.0339 | -8 | c.321 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54451229 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01123.hp1 HG01258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0016a0001c0001t0002g0003a0001c0002t0001g0004others(5): Show | 8 | 118 | 0.0678 | -8 | c.382 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54478660 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02976.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007a0001c0021others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0104a0001c0001t0002g0003others(3): Show | 6 | 118 | 0.0509 | -8 | c.382 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |