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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1A_chr19_13201442_13511479 | 13466687 | CAAT | C | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02486.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0006a0002c0002a0003c0110others(3): Show | a0001c0006t0008a0002c0002t0015a0003c0110t0006others(3): Show | a0001c0006t0008g0134 a0002c0002t0015g0160 a0003c0110t0006g0137 others(3): Show |
6 | 218 | 0.0275 | -3 | c.294 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13466703 | AATC | A | intron_variant | MODIFIER | HG00544.hp1 HG01192.hp1 HG02055.hp1 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0004a0001c0034a0001c0126others(3): Show | a0001c0004t0001a0001c0034t0001a0001c0126t0022others(3): Show | a0001c0004t0001g0078 a0001c0034t0001g0072 a0001c0126t0022g0006 others(3): Show |
6 | 218 | 0.0275 | -3 | c.294 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13469458 | CTCT | C | intron_variant | MODIFIER | HG00735.hp2 HG01257.hp2 HG01516.hp2 others(6): Show |
a0001a0002a0005others(3): Show | a0001c0004a0002c0030a0002c0085others(5): Show | a0001c0004t0001a0001c0004t0011a0002c0030t0002others(6): Show | a0001c0004t0001g0097 a0001c0004t0011g0157 a0002c0030t0002g0158 others(6): Show |
9 | 218 | 0.0413 | -3 | c.294 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13469460 | CTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00609.hp1 others(50): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0004a0001c0005others(40): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(46): Show | a0001c0001t0001g0194 a0001c0001t0004g0218 a0001c0004t0001g0078 others(50): Show |
53 | 218 | 0.2431 | -3 | c.294 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13485474 | AATG | A | intron_variant | MODIFIER | HG00544.hp1 HG01257.hp1 HG01952.hp2 others(11): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0002c0002others(9): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0002others(10): Show | a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0004t0001g0097 others(11): Show |
14 | 218 | 0.0642 | -3 | c.293 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13490701 | GAAA | G | intron_variant | MODIFIER | HG02572.hp2 HG02809.hp2 HG02970.hp1 others(2): Show |
a0002a0003a0014others(1): Show | a0002c0117a0003c0039a0003c0094others(2): Show | a0002c0117t0009a0003c0039t0009a0003c0094t0018others(2): Show | a0002c0117t0009g0079 a0003c0039t0009g0075 a0003c0094t0018g0208 others(2): Show |
5 | 218 | 0.0229 | -3 | c.293 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497522 | ATAT | A | intron_variant | MODIFIER | HG01255.hp1 HG01256.hp1 HG02293.hp2 others(1): Show |
a0001a0005a0008others(1): Show | a0001c0001a0005c0024a0008c0012others(1): Show | a0001c0001t0001a0005c0024t0008a0008c0012t0003others(1): Show | a0001c0001t0001g0019 a0005c0024t0008g0214 a0008c0012t0003g0091 others(1): Show |
4 | 218 | 0.0184 | -3 | c.293 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13502157 | TAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(23): Show |
a0001a0002a0003others(9): Show | a0001c0006a0001c0018a0001c0020others(20): Show | a0001c0006t0008a0001c0018t0001a0001c0020t0001others(22): Show | a0001c0006t0008g0148 a0001c0018t0001g0056 a0001c0020t0001g0051 others(23): Show |
26 | 218 | 0.1193 | -3 | c.293 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13506864 | CAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(54): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0004a0001c0006others(42): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0011others(47): Show | a0001c0001t0001g0030 a0001c0001t0001g0050 a0001c0001t0001g0115 others(54): Show |
57 | 218 | 0.2615 | -3 | c.-64 others(12): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 386 | chr19 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 137901686 | ATTT | A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(108): Show |
a0001a0002a0004others(10): Show | a0001c0002a0001c0003a0001c0005others(28): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(54): Show | a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0057 others(108): Show |
111 | 248 | 0.4476 | -3 | c.531 others(22): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 137937947 | CAAA | C | intron_variant | MODIFIER | HG01256.hp1 HG03041.hp2 HG03209.hp1 others(10): Show |
a0001a0005a0008others(1): Show | a0001c0002a0001c0003a0001c0005others(5): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0030others(9): Show | a0001c0002t0001g0069 a0001c0002t0004g0070 a0001c0002t0030g0120 others(10): Show |
13 | 248 | 0.0524 | -3 | c.967 others(22): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 137944199 | CAAG | C | intron_variant | MODIFIER | HG01891.hp2 HG02622.hp1 HG03453.hp2 |
a0007 | a0007c0016 | a0007c0016t0007 | a0007c0016t0007g0054 a0007c0016t0007g0062 a0007c0016t0007g0205 |
3 | 248 | 0.0121 | -3 | c.967 others(20): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 137999244 | AAAT | A | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(63): Show |
a0001a0007a0014others(5): Show | a0001c0002a0001c0003a0001c0005others(16): Show | a0001c0002t0005a0001c0002t0008a0001c0002t0011others(30): Show | a0001c0002t0005g0024 a0001c0002t0008g0026 a0001c0002t0008g0053 others(63): Show |
66 | 248 | 0.2661 | -3 | c.197 others(22): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138020098 | CAAA | C | intron_variant | MODIFIER | HG01433.hp2 HG02257.hp1 HG02486.hp2 others(5): Show |
a0002a0005 | a0002c0004a0002c0008a0005c0024 | a0002c0004t0001a0002c0008t0001a0005c0024t0011 | a0002c0004t0001g0014 a0002c0004t0001g0017 a0002c0004t0001g0175 others(5): Show |
8 | 248 | 0.0323 | -3 | c.226 others(22): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138079874 | CAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(24): Show |
a0001a0004a0008others(3): Show | a0001c0002a0001c0005a0001c0012others(6): Show | a0001c0002t0004a0001c0005t0004a0001c0012t0001others(8): Show | a0001c0002t0004g0067 a0001c0002t0004g0070 a0001c0002t0004g0073 others(24): Show |
27 | 248 | 0.1089 | -3 | c.509 others(22): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138087713 | CAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(39): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0001c0007others(10): Show | a0001c0002t0001a0001c0002t0021a0001c0002t0030others(15): Show | a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0057 others(39): Show |
42 | 248 | 0.1694 | -3 | c.509 others(22): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138107263 | TTTA | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0044a0002c0001others(5): Show | a0001c0002t0011a0001c0044t0005a0002c0001t0001others(6): Show | a0001c0002t0011g0052 a0001c0044t0005g0239 a0002c0001t0001g0036 others(16): Show |
19 | 248 | 0.0766 | -3 | c.542 others(22): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2077417 | AAGT | A | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp1 HG01071.hp2 others(74): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0029 a0001c0001t0002g0001 a0001c0001t0002g0027 others(74): Show |
77 | 104 | 0.7404 | -3 | c.49+ others(20): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2090310 | CTTT | C | intron_variant | MODIFIER | HG02258.hp1 HG02723.hp2 HG02886.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(6): Show | a0001c0001t0004a0001c0001t0021a0001c0002t0001others(7): Show | a0001c0001t0004g0008 a0001c0001t0021g0055 a0001c0002t0001g0092 others(7): Show |
10 | 104 | 0.0962 | -3 | c.50- others(20): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2101480 | ATCG | A | intron_variant | MODIFIER | HG02280.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0029 | a0001c0001t0015a0001c0029t0019 | a0001c0001t0015g0030 a0001c0029t0019g0060 |
2 | 104 | 0.0192 | -3 | c.50- others(20): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2116650 | ATCT | A | intron_variant | MODIFIER | HG02258.hp1 HG02809.hp1 HG03098.hp1 others(1): Show |
a0001a0003 | a0001c0015a0001c0017a0001c0018others(1): Show | a0001c0015t0034a0001c0017t0006a0001c0018t0042others(1): Show | a0001c0015t0034g0075 a0001c0017t0006g0006 a0001c0018t0042g0083 others(1): Show |
4 | 104 | 0.0385 | -3 | c.371 others(20): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 2/46 | chr12 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2182131 | CAAA | C | intron_variant | MODIFIER | HG01106.hp1 HG02040.hp2 HG02055.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(19): Show | a0001c0001t0002g0096 a0001c0001t0004g0038 a0001c0001t0013g0014 others(19): Show |
22 | 104 | 0.2115 | -3 | c.477 others(22): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2194250 | GCCT | G | intron_variant | MODIFIER | HG01071.hp1 HG01496.hp2 HG01891.hp1 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0029 a0001c0001t0002g0027 a0001c0001t0004g0005 others(33): Show |
36 | 104 | 0.3462 | -3 | c.477 others(22): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2437804 | GTGA | G | intron_variant | MODIFIER | HG01106.hp2 HG01358.hp1 HG01993.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0002g0027 a0001c0001t0004g0038 a0001c0001t0005g0015 others(18): Show |
21 | 104 | 0.2019 | -3 | c.478 others(22): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2438054 | ATGG | A | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02572.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0017others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0027 a0001c0001t0013g0014 others(6): Show |
9 | 104 | 0.0865 | -3 | c.478 others(22): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2446390 | GGGT | G | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp2 HG01358.hp1 others(7): Show |
a0001a0002 | a0001c0007a0001c0008a0001c0010others(3): Show | a0001c0007t0005a0001c0007t0006a0001c0008t0033others(6): Show | a0001c0007t0005g0002 a0001c0007t0006g0074 a0001c0008t0033g0051 others(7): Show |
10 | 104 | 0.0962 | -3 | c.478 others(20): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2459169 | GTTT | G | intron_variant | MODIFIER | HG01891.hp1 HG02723.hp1 HG02970.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0028a0001c0002t0003others(6): Show | a0001c0001t0002g0027 a0001c0001t0028g0081 a0001c0002t0003g0056 others(6): Show |
9 | 104 | 0.0865 | -3 | c.757 others(20): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 5/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2530213 | TTGA | T | intron_variant | MODIFIER | HG01358.hp1 HG01496.hp1 HG01496.hp2 others(36): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0002g0027 a0001c0001t0003g0063 a0001c0001t0004g0038 others(36): Show |
39 | 104 | 0.3750 | -3 | c.139 others(24): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2542143 | CTTT | C | intron_variant | MODIFIER | HG01358.hp1 HG01496.hp1 HG01496.hp2 others(28): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(25): Show | a0001c0001t0002g0027 a0001c0001t0004g0038 a0001c0001t0005g0015 others(28): Show |
31 | 104 | 0.2981 | -3 | c.139 others(22): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2555920 | TCTC | T | intron_variant | MODIFIER | HG02886.hp1 HG03041.hp1 HG03486.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0026others(2): Show | a0001c0001t0004a0001c0001t0005a0001c0004t0004others(3): Show | a0001c0001t0004g0005 a0001c0001t0005g0015 a0001c0001t0005g0097 others(4): Show |
7 | 104 | 0.0673 | -3 | c.148 others(22): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2572678 | CCTT | C | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02258.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0010others(3): Show | a0001c0001t0045a0001c0003t0018a0001c0010t0003others(3): Show | a0001c0001t0045g0052 a0001c0003t0018g0068 a0001c0010t0003g0054 others(3): Show |
6 | 104 | 0.0577 | -3 | c.189 others(22): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 13/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2572782 | TCTC | T | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02809.hp2 |
a0001 | a0001c0004a0001c0029a0001c0037 | a0001c0004t0036a0001c0029t0019a0001c0037t0006 | a0001c0004t0036g0099 a0001c0029t0019g0060 a0001c0037t0006g0025 |
3 | 104 | 0.0289 | -3 | c.189 others(22): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 13/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2572964 | TCTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01071.hp1 others(76): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(51): Show | a0001c0001t0001g0088 a0001c0001t0002g0001 a0001c0001t0002g0027 others(76): Show |
79 | 104 | 0.7596 | -3 | c.189 others(22): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 13/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2640723 | TTAG | T | intron_variant | MODIFIER | HG01106.hp2 HG01891.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0003a0001c0004a0001c0007 | a0001c0003t0037a0001c0004t0004a0001c0004t0023others(1): Show | a0001c0003t0037g0003 a0001c0004t0004g0084 a0001c0004t0004g0086 others(2): Show |
5 | 104 | 0.0481 | -3 | c.391 others(22): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 30/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2641982 | CTTG | C | intron_variant | MODIFIER | HG02451.hp1 HG03195.hp2 |
a0001 | a0001c0005a0001c0024 | a0001c0005t0026a0001c0024t0003 | a0001c0005t0026g0079 a0001c0024t0003g0067 |
2 | 104 | 0.0192 | -3 | c.391 others(22): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 30/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2667537 | AAAC | A | intron_variant | MODIFIER | HG02723.hp2 HG02886.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0011a0001c0022 | a0001c0001t0005a0001c0011t0014a0001c0022t0014 | a0001c0001t0005g0097 a0001c0011t0014g0007 a0001c0022t0014g0050 |
3 | 104 | 0.0289 | -3 | c.462 others(20): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 37/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2697166 | CATA | C | 3_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02723.hp1 HG02896.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0009a0002c0013others(1): Show | a0001c0003t0040a0002c0009t0012a0002c0013t0016others(1): Show | a0001c0003t0040g0011 a0002c0009t0012g0061 a0002c0009t0012g0062 others(2): Show |
5 | 104 | 0.0481 | -3 | c.*59 others(14): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 47/47 | 5968 | chr12 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53531703 | TCTC | T | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0028a0001c0002t0030a0001c0002t0034 | a0001c0002t0028g0198 a0001c0002t0030g0196 a0001c0002t0034g0197 |
3 | 210 | 0.0143 | -3 | c.483 others(22): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53548352 | CTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG02040.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0068others(6): Show | a0001c0001t0002g0109 a0001c0001t0012g0166 a0001c0001t0068g0001 others(6): Show |
9 | 210 | 0.0429 | -3 | c.483 others(22): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53597220 | TCTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01070.hp1 others(62): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0002 a0001c0001t0001g0142 a0001c0001t0001g0149 others(62): Show |
65 | 210 | 0.3095 | -3 | c.484 others(22): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53609409 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0136 a0001c0001t0002g0122 a0001c0001t0004g0160 others(10): Show |
13 | 210 | 0.0619 | -3 | c.484 others(22): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53683710 | CAGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(54): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0015 a0001c0001t0001g0136 a0001c0001t0001g0142 others(54): Show |
57 | 210 | 0.2714 | -3 | c.122 others(22): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53749716 | GTGC | G | intron_variant | MODIFIER | HG01884.hp2 HG01934.hp1 HG02258.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0068a0001c0003t0037 | a0001c0001t0003g0113 a0001c0001t0068g0001 a0001c0003t0037g0020 others(1): Show |
4 | 210 | 0.0191 | -3 | c.357 others(20): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 28/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53794700 | CAAG | C | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp1 |
a0001 | a0001c0002 | a0001c0002t0034a0001c0002t0051 | a0001c0002t0034g0183 a0001c0002t0051g0121 |
2 | 210 | 0.0095 | -3 | c.498 others(22): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 41/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53805868 | CCCT | C | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0017a0001c0001t0029a0001c0001t0068others(5): Show | a0001c0001t0017g0110 a0001c0001t0029g0143 a0001c0001t0068g0001 others(5): Show |
8 | 210 | 0.0381 | -3 | c.580 others(20): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 46/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53806025 | CCCT | C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02572.hp2 others(12): Show |
a0001a0002 | a0001c0002a0001c0007a0002c0016 | a0001c0002t0006a0001c0002t0013a0001c0002t0018others(6): Show | a0001c0002t0006g0011 a0001c0002t0006g0180 a0001c0002t0006g0189 others(12): Show |
15 | 210 | 0.0714 | -3 | c.580 others(20): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 46/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53813129 | ATTT | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(47): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0136 others(98): Show |
101 | 210 | 0.4810 | -3 | c.*17 others(14): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 49/49 | 1744 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53816131 | ACGC | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(70): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(37): Show | a0001c0001t0001g0002 a0001c0001t0001g0136 a0001c0001t0001g0142 others(70): Show |
73 | 210 | 0.3476 | -3 | c.*47 others(14): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 2399 | chr3 | TogoVar | |||||||
CACNA1D_chr3_53489611_53818733 | 53816840 | GTTT | G | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01074.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0021a0001c0001t0041a0001c0001t0067others(24): Show | a0001c0001t0021g0130 a0001c0001t0021g0131 a0001c0001t0041g0125 others(36): Show |
39 | 210 | 0.1857 | -3 | c.*54 others(14): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3108 | chr3 | TogoVar | |||||||
CACNA1E_chr1_181478517_181813084 | 181487023 | ATTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00642.hp2 others(19): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(8): Show | a0001c0001t0005a0001c0001t0063a0001c0001t0064others(16): Show | a0001c0001t0005g0015 a0001c0001t0063g0026 a0001c0001t0064g0013 others(19): Show |
22 | 206 | 0.1068 | -3 | c.266 others(20): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |