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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA2D1_chr7_81941444_82448777 | 82332565 | A | AGAAAGAA others(5): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0027 | 1 | 144 | 0.0069 | 12 | c.294 others(29): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82363254 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03139.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0077a0001c0001t0005g0136a0001c0001t0007g0085others(1): Show | 4 | 144 | 0.0278 | 12 | c.96- others(29): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82366903 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 144 | 0.0069 | 12 | c.96- others(29): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82370572 | T | TGGATGGA others(5): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00639.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0049a0001c0001t0002g0097a0001c0001t0002g0100others(35): Show | 38 | 144 | 0.2639 | 12 | c.96- others(29): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82393031 | G | GAGGAAGG others(5): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02027.hp1 HG02451.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0007a0001c0001t0003g0013a0001c0001t0004g0041others(5): Show | 8 | 144 | 0.0556 | 12 | c.96- others(29): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82393083 | A | AAGGAAGG others(5): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01243.hp1 HG02258.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(6): Show | a0001c0001t0003g0016a0001c0001t0007g0015a0001c0001t0008g0083others(7): Show | 10 | 144 | 0.0694 | 12 | c.96- others(29): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82411895 | T | TCACACAC others(5): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0023 | 1 | 144 | 0.0069 | 12 | c.95+ others(29): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D2_chr3_50357613_50508634 | 50363466 | C | CTGTGTGT others(5): Show |
3_prime_UTR_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0031 | 1 | 234 | 0.0043 | 12 | c.*11 others(23): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 1199 | chr3 | TogoVar | |||||
CACNA2D2_chr3_50357613_50508634 | 50413849 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(114): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0045others(114): Show | 117 | 234 | 0.5000 | 12 | c.406 others(31): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | TogoVar | ||||||
CACNA2D2_chr3_50357613_50508634 | 50468380 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG03041.hp2 HG06807.hp2 NA18966.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0030a0003c0004t0008 | a0001c0001t0001g0045a0001c0001t0001g0158a0001c0001t0030g0155others(1): Show | 4 | 234 | 0.0171 | 12 | c.288 others(29): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54125242 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03225.hp1 |
a0001 | a0001c0006a0001c0023 | a0001c0006t0001a0001c0023t0001 | a0001c0006t0001g0017a0001c0023t0001g0018 | 2 | 118 | 0.0170 | 12 | c.204 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54141061 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01884.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0045a0001c0002t0001g0115a0001c0005t0001g0005others(2): Show | 5 | 118 | 0.0424 | 12 | c.204 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54149267 | G | GCACACAC others(5): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01243.hp1 HG01884.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0024others(3): Show | a0001c0001t0001a0001c0008t0001a0001c0024t0001others(3): Show | a0001c0001t0001g0089a0001c0008t0001g0074a0001c0024t0001g0069others(3): Show | 6 | 118 | 0.0509 | 12 | c.204 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54149877 | G | GTGTCTCT others(5): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0026 | a0001c0026t0009 | a0001c0026t0009g0073 | 1 | 118 | 0.0085 | 12 | c.204 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54149928 | T | TCTCTCTC others(5): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03579.hp2 HG04204.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0097a0001c0001t0001g0104a0001c0014t0001g0071 | 3 | 118 | 0.0254 | 12 | c.204 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54171136 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02922.hp1 NA18906.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0013a0001c0032 | a0001c0001t0012a0001c0013t0001a0001c0032t0001 | a0001c0001t0012g0063a0001c0013t0001g0093a0001c0032t0001g0048 | 3 | 118 | 0.0254 | 12 | c.204 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54191397 | A | ACATCATC others(5): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01192.hp1 HG02300.hp1 others(1): Show |
a0001 | a0001c0002a0001c0009a0001c0018others(1): Show | a0001c0002t0002a0001c0009t0008a0001c0018t0001others(1): Show | a0001c0002t0002g0066a0001c0009t0008g0077a0001c0018t0001g0076others(1): Show | 4 | 118 | 0.0339 | 12 | c.204 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54247312 | T | TCAAACAA others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00639.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(26): Show | a0001c0001t0001g0010a0001c0001t0001g0034a0001c0001t0001g0045others(39): Show | 42 | 118 | 0.3559 | 12 | c.205 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54247329 | C | CAAACAAA others(5): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0037 | a0001c0001t0001a0001c0037t0004 | a0001c0001t0001g0033a0001c0037t0004g0019 | 2 | 118 | 0.0170 | 12 | c.205 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54249558 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01255.hp1 HG01884.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(5): Show | a0001c0001t0001g0045a0001c0001t0003g0058a0001c0001t0012g0063others(6): Show | 9 | 118 | 0.0763 | 12 | c.205 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54252100 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01934.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(10): Show | a0001c0001t0001g0033a0001c0001t0001g0045a0001c0001t0001g0053others(16): Show | 19 | 118 | 0.1610 | 12 | c.205 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54254704 | G | GTTGTTGT others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(21): Show | a0001c0001t0001g0010a0001c0001t0001g0034a0001c0001t0001g0045others(31): Show | 34 | 118 | 0.2881 | 12 | c.205 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54274215 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0038 | a0001c0038t0010 | a0001c0038t0010g0059 | 1 | 118 | 0.0085 | 12 | c.205 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54293563 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0072 | 1 | 118 | 0.0085 | 12 | c.205 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54303818 | G | GTTTTTTG others(5): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02080.hp1 |
a0001 | a0001c0003a0001c0008 | a0001c0003t0001a0001c0008t0001 | a0001c0003t0001g0101a0001c0008t0001g0074 | 2 | 118 | 0.0170 | 12 | c.205 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54303818 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0093 | 1 | 118 | 0.0085 | 12 | c.205 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54319157 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02965.hp2 |
a0001 | a0001c0012a0001c0013 | a0001c0012t0011a0001c0013t0001 | a0001c0012t0011g0036a0001c0013t0001g0105 | 2 | 118 | 0.0170 | 12 | c.205 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54319199 | C | CACACACA others(5): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0054 | 1 | 118 | 0.0085 | 12 | c.205 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54338467 | C | CTCTGTGT others(5): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 118 | 0.0085 | 12 | c.321 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54338467 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02622.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0001 | a0001c0001t0001g0061a0001c0001t0001g0100a0001c0017t0001g0025 | 3 | 118 | 0.0254 | 12 | c.321 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54350968 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0063 | 1 | 118 | 0.0085 | 12 | c.321 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54363196 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03041.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0001 | a0001c0003t0001g0094a0001c0005t0001g0005 | 2 | 118 | 0.0170 | 12 | c.322 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54387658 | A | ATAAGTAA others(5): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0039 | a0001c0039t0001 | a0001c0039t0001g0047 | 1 | 118 | 0.0085 | 12 | c.381 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54412610 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(21): Show | a0001c0001t0001g0024a0001c0001t0001g0034a0001c0001t0001g0035others(36): Show | 39 | 118 | 0.3305 | 12 | c.381 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54439308 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG02630.hp1 NA19068.hp2 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0019t0001 | a0001c0001t0001g0033a0001c0019t0001g0075 | 2 | 118 | 0.0170 | 12 | c.381 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54445555 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01169.hp1 HG01258.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0083others(8): Show | 11 | 118 | 0.0932 | 12 | c.382 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54475809 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02486.hp1 HG02976.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0053a0001c0001t0001g0104others(5): Show | 8 | 118 | 0.0678 | 12 | c.382 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54500504 | T | TCTTCCTT others(5): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02717.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(4): Show | a0001c0001t0001g0037a0001c0001t0001g0089a0001c0002t0001g0070others(5): Show | 8 | 118 | 0.0678 | 12 | c.382 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54500508 | C | CCTTCCTT others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00639.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0024a0001c0001t0001g0030a0001c0001t0001g0080others(9): Show | 12 | 118 | 0.1017 | 12 | c.382 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54522929 | T | TTTACTTA others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02080.hp1 HG02258.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0003others(1): Show | a0001c0001t0001g0029a0001c0003t0001g0101a0001c0005t0003g0055others(1): Show | 4 | 118 | 0.0339 | 12 | c.544 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54522933 | T | TTTACTTA others(5): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 | 1 | 118 | 0.0085 | 12 | c.544 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54522933 | T | TTTATTTA others(5): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 118 | 0.0085 | 12 | c.544 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54522933 | T | TTTATTTA others(5): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02922.hp2 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0003a0001c0017t0001 | a0001c0001t0003g0058a0001c0017t0001g0025 | 2 | 118 | 0.0170 | 12 | c.544 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54590597 | C | CTTATTAT others(5): Show |
intron_variant | MODIFIER | HG02976.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0037 | a0001c0001t0001a0001c0037t0004 | a0001c0001t0001g0034a0001c0037t0004g0019 | 2 | 118 | 0.0170 | 12 | c.963 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54598307 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 118 | 0.0085 | 12 | c.963 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54618352 | C | CATACATA others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01258.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0016 | a0001c0001t0001a0001c0004t0001a0001c0016t0005 | a0001c0001t0001g0029a0001c0001t0001g0033a0001c0001t0001g0087others(2): Show | 5 | 118 | 0.0424 | 12 | c.964 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54618374 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0025 | a0001c0025t0004 | a0001c0025t0004g0106 | 1 | 118 | 0.0085 | 12 | c.964 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54618374 | T | TATATATG others(5): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01255.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0046a0001c0002t0001g0012 | 2 | 118 | 0.0170 | 12 | c.964 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54631203 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02486.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001a0001c0021a0001c0031 | a0001c0001t0001a0001c0001t0012a0001c0021t0002others(1): Show | a0001c0001t0001g0046a0001c0001t0001g0104a0001c0001t0012g0063others(2): Show | 5 | 118 | 0.0424 | 12 | c.105 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54646132 | T | TTCCCTCC others(5): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0090 | 1 | 118 | 0.0085 | 12 | c.116 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |