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 | 82297072 | C | CAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02970.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0003g0062a0001c0001t0003g0086a0001c0001t0004g0021others(5): Show | 8 | 144 | 0.0556 | 5 | c.294 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82305571 | T | TTGCCC | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01258.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0010a0001c0001t0003g0034a0001c0001t0004g0046others(1): Show | 4 | 144 | 0.0278 | 5 | c.294 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82432037 | T | TAAAAA | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG02559.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0070a0001c0001t0003g0076a0001c0001t0004g0056others(8): Show | 11 | 144 | 0.0764 | 5 | c.95+ others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D2_chr3_50357613_50508634 | 50431980 | C | CAAAAA | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02486.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0002t0001a0001c0002t0006others(1): Show | a0001c0001t0019g0031a0001c0002t0001g0083a0001c0002t0001g0084others(5): Show | 8 | 234 | 0.0342 | 5 | c.405 others(22): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54226312 | C | CTTTTT | intron_variant | MODIFIER | HG01123.hp1 HG01934.hp2 HG02080.hp2 others(1): Show |
a0001 | a0001c0002a0001c0028a0001c0033others(1): Show | a0001c0002t0001a0001c0028t0001a0001c0033t0001others(1): Show | a0001c0002t0001g0004a0001c0028t0001g0090a0001c0033t0001g0114others(1): Show | 4 | 118 | 0.0339 | 5 | c.205 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54242273 | C | CAAAAA | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0002a0001c0014a0001c0036others(1): Show | a0001c0002t0001a0001c0014t0001a0001c0036t0005others(1): Show | a0001c0002t0001g0060a0001c0002t0001g0070a0001c0014t0001g0071others(2): Show | 5 | 118 | 0.0424 | 5 | c.205 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54394318 | A | ATTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01106.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0003others(11): Show | a0001c0001t0001g0010a0001c0001t0001g0068a0001c0001t0001g0118others(14): Show | 17 | 118 | 0.1441 | 5 | c.381 others(22): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54405074 | T | TCTATA | intron_variant | MODIFIER | HG00673.hp1 HG02976.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0013t0001others(2): Show | a0001c0001t0001g0083a0001c0002t0001g0039a0001c0013t0001g0093others(2): Show | 5 | 118 | 0.0424 | 5 | c.381 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54586262 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01106.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0080a0001c0001t0001g0097a0001c0001t0001g0107others(6): Show | 9 | 118 | 0.0763 | 5 | c.963 others(22): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54598307 | C | CAAAAA | intron_variant | MODIFIER | HG01123.hp1 HG01255.hp1 HG01934.hp1 others(5): Show |
a0001 | a0001c0002a0001c0004a0001c0009others(2): Show | a0001c0002t0001a0001c0004t0001a0001c0009t0008others(2): Show | a0001c0002t0001g0004a0001c0002t0001g0012a0001c0002t0001g0081others(5): Show | 8 | 118 | 0.0678 | 5 | c.963 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54681382 | C | CAAAAA | intron_variant | MODIFIER | HG02300.hp1 NA19240.hp1 NA20300.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0053a0001c0001t0001g0068a0001c0002t0001g0040others(2): Show | 5 | 118 | 0.0424 | 5 | c.116 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54687121 | C | CTTTTT | intron_variant | MODIFIER | HG02965.hp2 HG03041.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0013others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0013t0001others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0083a0001c0003t0001g0042others(2): Show | 5 | 118 | 0.0424 | 5 | c.116 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54689010 | A | AAAGAG | intron_variant | MODIFIER | HG01123.hp2 HG01258.hp1 HG01884.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0012a0001c0003t0001a0001c0003t0006others(8): Show | a0001c0001t0012g0063a0001c0003t0001g0038a0001c0003t0006g0064others(8): Show | 11 | 118 | 0.0932 | 5 | c.116 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54763761 | A | ATTGTG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(22): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0006others(9): Show | a0001c0003t0001a0001c0003t0006a0001c0004t0001others(11): Show | a0001c0003t0001g0011a0001c0003t0001g0026a0001c0003t0001g0038others(22): Show | 25 | 118 | 0.2119 | 5 | c.124 others(22): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54827055 | T | TGCTAC | intron_variant | MODIFIER | HG02258.hp1 HG02976.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0012a0001c0003t0001a0001c0005t0003others(1): Show | a0001c0001t0012g0063a0001c0003t0001g0042a0001c0005t0003g0055others(1): Show | 4 | 118 | 0.0339 | 5 | c.139 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54840719 | A | ATTTTT | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02280.hp2 others(1): Show |
a0001 | a0001c0002a0001c0007a0001c0023 | a0001c0002t0001a0001c0007t0001a0001c0023t0001 | a0001c0002t0001g0039a0001c0007t0001g0043a0001c0007t0001g0067others(1): Show | 4 | 118 | 0.0339 | 5 | c.155 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 16/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54941016 | T | TAAGAC | intron_variant | MODIFIER | HG00423.hp2 HG02486.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0037a0001c0001t0001g0045a0001c0001t0001g0053others(5): Show | 8 | 118 | 0.0678 | 5 | c.245 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54969261 | A | ATTTTT | intron_variant | MODIFIER | HG02622.hp2 HG02922.hp2 HG03041.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0024a0001c0001t0001g0061a0001c0001t0003g0058others(6): Show | 9 | 118 | 0.0763 | 5 | c.251 others(22): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 28/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54998713 | T | TTTTTG | intron_variant | MODIFIER | HG01258.hp1 HG02080.hp2 HG02109.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(7): Show | a0001c0001t0001g0006a0001c0002t0001g0039a0001c0002t0001g0082others(8): Show | 11 | 118 | 0.0932 | 5 | c.269 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55074840 | A | ATAATT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00673.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0030a0001c0002t0001g0004others(5): Show | 8 | 118 | 0.0678 | 5 | c.*63 others(14): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 284 | chr3 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1851682 | T | TGTGCG | intron_variant | MODIFIER | HG01168.hp2 HG01256.hp2 HG01258.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0107a0001c0001t0001g0156a0001c0001t0002g0080others(9): Show | 12 | 318 | 0.0377 | 5 | c.224 others(24): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 23/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1907384 | A | ATTGTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(299): Show |
a0001a0003a0004others(14): Show | a0001c0001a0001c0002a0001c0003others(49): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(94): Show | a0001c0001t0001g0039a0001c0001t0001g0078a0001c0001t0001g0081others(299): Show | 302 | 318 | 0.9497 | 5 | c.781 others(18): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 6/37 | chr12 | TogoVar | ||||||
CACNB1_chr17_39168453_39202669 | 39170961 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG03041.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0024 | a0001c0001t0003g0037a0001c0001t0003g0145a0001c0001t0003g0165others(4): Show | 7 | 396 | 0.0177 | 5 | c.*42 others(16): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 2491 | chr17 | TogoVar | ||||||
CACNB1_chr17_39168453_39202669 | 39189362 | C | CAAAAT | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02145.hp1 others(9): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(1): Show | a0001c0001t0001g0133a0001c0001t0003g0037a0001c0001t0003g0143others(8): Show | 12 | 396 | 0.0303 | 5 | c.292 others(22): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 3/13 | chr17 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18137084 | C | CTTCCT | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02622.hp2 HG03139.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0016a0001c0001t0032others(2): Show | a0001c0001t0011g0029a0001c0001t0011g0125a0001c0001t0016g0181others(3): Show | 6 | 200 | 0.0300 | 5 | c.-36 others(16): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3339 | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18144052 | T | TTTTTG | intron_variant | MODIFIER | HG01243.hp1 HG03540.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0002t0002g0050 | 3 | 200 | 0.0150 | 5 | c.120 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18146306 | A | ATTTTT | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp1 HG01981.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0019a0001c0001t0031others(2): Show | a0001c0001t0011g0029a0001c0001t0011g0055a0001c0001t0011g0125others(5): Show | 8 | 200 | 0.0400 | 5 | c.121 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18150879 | T | TTTTTG | splice_acceptor_variant others(1): Show |
HIGH | HG02040.hp2 HG03041.hp1 HG03492.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0001g0171a0001c0001t0004g0163a0001c0001t0004g0165others(5): Show | 8 | 200 | 0.0400 | 5 | c.121 others(16): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18181065 | G | GAAAAA | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG01884.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0025a0001c0001t0003g0026a0001c0001t0003g0136others(16): Show | 19 | 200 | 0.0950 | 5 | c.213 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18181562 | T | TTTTTA | intron_variant | MODIFIER | HG02040.hp2 HG02647.hp2 HG03486.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0036a0001c0001t0001g0067a0001c0001t0004g0163others(5): Show | 8 | 200 | 0.0400 | 5 | c.213 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18223991 | A | ATTTTT | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG03041.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0011a0001c0001t0012a0001c0002t0002others(3): Show | a0001c0001t0011g0029a0001c0001t0012g0003a0001c0002t0002g0142others(4): Show | 7 | 200 | 0.0350 | 5 | c.213 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18259565 | A | AAAAAG | intron_variant | MODIFIER | HG00642.hp2 HG01071.hp1 HG01074.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0031a0001c0001t0001g0033a0001c0001t0001g0034others(22): Show | 25 | 200 | 0.1250 | 5 | c.213 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18299088 | T | TAAAAG | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp1 HG00642.hp2 others(116): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(42): Show | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0025others(116): Show | 119 | 200 | 0.5950 | 5 | c.214 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18307983 | C | CTTTTT | intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0058a0001c0001t0003g0044a0001c0001t0007g0188others(4): Show | 7 | 200 | 0.0350 | 5 | c.214 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18315332 | A | AAAAAC | intron_variant | MODIFIER | HG03139.hp1 HG03704.hp1 NA18952.hp1 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0004a0001c0002t0002a0001c0006t0049 | a0001c0001t0004g0156a0001c0002t0002g0075a0001c0006t0049g0076 | 3 | 200 | 0.0150 | 5 | c.214 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18356938 | A | ATGTCT | intron_variant | MODIFIER | HG01069.hp2 HG03704.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0041 | a0001c0001t0001g0171a0001c0001t0009g0177a0001c0001t0041g0074 | 3 | 200 | 0.0150 | 5 | c.214 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18386399 | A | ATTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01891.hp2 HG01978.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0032a0001c0001t0001g0104a0001c0001t0003g0064others(4): Show | 7 | 200 | 0.0350 | 5 | c.214 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18464418 | T | TAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0002a0001c0001t0004g0161a0001c0001t0004g0167others(5): Show | 8 | 200 | 0.0400 | 5 | c.334 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18481231 | T | TATATA | intron_variant | MODIFIER | HG00609.hp2 HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0023a0001c0002t0017 | a0001c0001t0023g0191a0001c0001t0023g0192a0001c0002t0017g0154 | 3 | 200 | 0.0150 | 5 | c.334 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18491819 | T | TAAAAA | intron_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG01109.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0036a0001c0001t0003g0144a0001c0001t0004g0156others(13): Show | 16 | 200 | 0.0800 | 5 | c.334 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18496185 | C | CAAAAA | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG01258.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0058a0001c0001t0003g0047a0001c0001t0003g0080others(11): Show | 14 | 200 | 0.0700 | 5 | c.334 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18513101 | C | CTTTTT | intron_variant | MODIFIER | HG01071.hp1 HG01243.hp2 HG02055.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0001t0006a0001c0001t0021others(5): Show | a0001c0001t0004g0167a0001c0001t0006g0005a0001c0001t0006g0017others(10): Show | 13 | 200 | 0.0650 | 5 | c.671 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18536242 | C | CCTTTT | intron_variant | MODIFIER | HG00423.hp1 HG01258.hp1 HG01884.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005a0001c0002t0017others(1): Show | a0001c0002t0002g0004a0001c0002t0002g0050a0001c0002t0002g0069others(8): Show | 11 | 200 | 0.0550 | 5 | c.130 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18536243 | C | CTTTTT | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0008a0001c0001t0055others(2): Show | a0001c0001t0001g0058a0001c0001t0008g0007a0001c0001t0055g0170others(3): Show | 6 | 200 | 0.0300 | 5 | c.130 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18538956 | T | TAAAAG | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0173a0001c0001t0007g0039a0001c0001t0007g0188others(1): Show | 4 | 200 | 0.0200 | 5 | c.148 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18356938 | A | ATGTCT | intron_variant | MODIFIER | HG01069.hp2 HG03704.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0037 | a0001c0001t0001g0196a0001c0001t0003g0167a0001c0001t0037g0195 | 3 | 302 | 0.0099 | 5 | c.51+ others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18386399 | A | ATTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01515.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0213a0001c0001t0001g0229others(10): Show | 13 | 302 | 0.0431 | 5 | c.52- others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18464418 | T | TAAAAA | intron_variant | MODIFIER | HG01975.hp1 HG02055.hp2 HG02145.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0001t0015a0001c0001t0029others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0245a0001c0001t0001g0256others(6): Show | 9 | 302 | 0.0298 | 5 | c.172 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18481231 | T | TATATA | intron_variant | MODIFIER | HG00609.hp1 HG01257.hp2 HG01258.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0019a0001c0001t0022others(1): Show | a0001c0001t0001g0178a0001c0001t0019g0100a0001c0001t0022g0036others(2): Show | 5 | 302 | 0.0166 | 5 | c.172 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18491819 | T | TAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG01109.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0035a0001c0001t0001g0073others(15): Show | 18 | 302 | 0.0596 | 5 | c.172 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |