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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA2D3_chr3_54117552_55079557 | 54840719 | A | ATTTTT | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02280.hp2 others(1): Show |
a0001 | a0001c0002a0001c0007a0001c0023 | a0001c0002t0001a0001c0007t0001a0001c0023t0001 | a0001c0002t0001g0039 a0001c0007t0001g0043 a0001c0007t0001g0067 others(1): Show |
4 | 78 | 0.0513 | 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 | a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0053 others(5): Show |
8 | 116 | 0.0690 | 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 | a0001c0001t0001g0024 a0001c0001t0001g0061 a0001c0001t0003g0058 others(6): Show |
9 | 82 | 0.1098 | 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 | a0001c0001t0001g0006 a0001c0002t0001g0039 a0001c0002t0001g0082 others(8): Show |
11 | 59 | 0.1864 | 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 | a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0002t0001g0004 others(5): Show |
8 | 116 | 0.0690 | 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 | a0001c0001t0001g0112 a0001c0001t0001g0157 a0001c0001t0002g0082 others(9): Show |
12 | 164 | 0.0732 | 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(298): Show |
a0001a0003a0004others(14): Show | a0001c0001a0001c0002a0001c0003others(49): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(94): Show | a0001c0001t0001g0039 a0001c0001t0001g0076 a0001c0001t0001g0083 others(298): Show |
301 | 316 | 0.9525 | 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 | a0001c0001t0003g0037 a0001c0001t0003g0145 a0001c0001t0003g0165 others(4): Show |
7 | 241 | 0.0290 | 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 | a0001c0001t0001g0133 a0001c0001t0003g0037 a0001c0001t0003g0143 others(8): Show |
12 | 394 | 0.0305 | 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 | a0001c0001t0012a0001c0001t0015a0001c0001t0031others(2): Show | a0001c0001t0012g0029 a0001c0001t0012g0125 a0001c0001t0015g0181 others(3): Show |
6 | 32 | 0.1875 | 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 | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0002t0002g0050 |
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 | a0001c0001t0012a0001c0001t0021a0001c0001t0030others(2): Show | a0001c0001t0012g0029 a0001c0001t0012g0055 a0001c0001t0012g0125 others(5): Show |
8 | 94 | 0.0851 | 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 | a0001c0001t0001g0171 a0001c0001t0004g0163 a0001c0001t0004g0165 others(5): Show |
8 | 186 | 0.0430 | 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 | a0001c0001t0001g0025 a0001c0001t0003g0026 a0001c0001t0003g0135 others(16): Show |
19 | 132 | 0.1439 | 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 | a0001c0001t0001g0036 a0001c0001t0001g0068 a0001c0001t0004g0163 others(5): Show |
8 | 40 | 0.2000 | 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 | a0001c0001t0012a0001c0001t0013a0001c0002t0002others(3): Show | a0001c0001t0012g0029 a0001c0001t0013g0003 a0001c0002t0002g0142 others(4): Show |
7 | 33 | 0.2121 | 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 | a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 others(22): Show |
25 | 93 | 0.2688 | 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(41): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0025 others(116): Show |
119 | 180 | 0.6611 | 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 | a0001c0001t0001g0058 a0001c0001t0003g0044 a0001c0001t0007g0188 others(4): Show |
7 | 87 | 0.0805 | 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 | a0001c0001t0004a0001c0002t0002a0001c0006t0048 | a0001c0001t0004g0156 a0001c0002t0002g0077 a0001c0006t0048g0067 |
3 | 119 | 0.0252 | 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 | a0001c0001t0001a0001c0001t0009a0001c0001t0040 | a0001c0001t0001g0171 a0001c0001t0009g0177 a0001c0001t0040g0076 |
3 | 111 | 0.0270 | 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 | a0001c0001t0001g0032 a0001c0001t0001g0103 a0001c0001t0003g0064 others(4): Show |
7 | 70 | 0.1000 | 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 | a0001c0001t0001g0002 a0001c0001t0004g0161 a0001c0001t0004g0167 others(5): Show |
8 | 73 | 0.1096 | 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 | a0001c0001t0011a0001c0002t0019 | a0001c0001t0011g0191 a0001c0001t0011g0192 a0001c0002t0019g0154 |
3 | 181 | 0.0166 | 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 | a0001c0001t0001g0036 a0001c0001t0003g0144 a0001c0001t0004g0156 others(13): Show |
16 | 44 | 0.3636 | 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 | a0001c0001t0001g0058 a0001c0001t0003g0047 a0001c0001t0003g0080 others(11): Show |
14 | 94 | 0.1489 | 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 | a0001c0001t0004a0001c0001t0006a0001c0001t0023others(4): Show | a0001c0001t0004g0167 a0001c0001t0006g0005 a0001c0001t0006g0017 others(10): Show |
13 | 58 | 0.2241 | 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 | a0001c0002t0002a0001c0002t0005a0001c0002t0019others(1): Show | a0001c0002t0002g0004 a0001c0002t0002g0050 a0001c0002t0002g0070 others(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 | a0001c0001t0001a0001c0001t0008a0001c0001t0053others(2): Show | a0001c0001t0001g0058 a0001c0001t0008g0007 a0001c0001t0053g0170 others(3): Show |
6 | 99 | 0.0606 | 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 | a0001c0001t0003g0173 a0001c0001t0007g0039 a0001c0001t0007g0188 others(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 | a0001c0001t0001a0001c0001t0003a0001c0001t0034 | a0001c0001t0001g0195 a0001c0001t0003g0167 a0001c0001t0034g0196 |
3 | 186 | 0.0161 | 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 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0213 a0001c0001t0001g0229 others(10): Show |
13 | 88 | 0.1477 | 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 | a0001c0001t0001a0001c0001t0015a0001c0001t0028others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0245 a0001c0001t0001g0255 others(6): Show |
9 | 106 | 0.0849 | 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 | a0001c0001t0001a0001c0001t0012a0001c0001t0020others(1): Show | a0001c0001t0001g0178 a0001c0001t0012g0036 a0001c0001t0012g0038 others(2): Show |
5 | 265 | 0.0189 | 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 | a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0076 others(15): Show |
18 | 53 | 0.3396 | 5 | c.172 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18496185 | C | CAAAAA | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG01258.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0014 a0001c0001t0001g0091 a0001c0001t0003g0282 others(12): Show |
15 | 123 | 0.1220 | 5 | c.172 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18513101 | C | CTTTTT | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01243.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(5): Show | a0001c0001t0001g0002 a0001c0001t0005g0090 a0001c0001t0005g0103 others(12): Show |
15 | 68 | 0.2206 | 5 | c.509 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18536242 | C | CCTTTT | intron_variant | MODIFIER | HG00423.hp1 HG01256.hp2 HG01258.hp2 others(17): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0042others(1): Show | a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0084 others(17): Show |
20 | 300 | 0.0667 | 5 | c.114 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18536243 | C | CTTTTT | intron_variant | MODIFIER | HG01928.hp2 HG02451.hp1 HG02723.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(3): Show | a0001c0001t0001g0064 a0001c0001t0001g0091 a0001c0001t0001g0093 others(7): Show |
10 | 149 | 0.0671 | 5 | c.114 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18538956 | T | TAAAAG | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0298 a0001c0001t0010g0026 a0001c0001t0010g0287 others(1): Show |
4 | 300 | 0.0133 | 5 | c.132 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151850141 | C | CTTTCT | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00609.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0026others(9): Show | a0001c0001t0002g0020 a0001c0001t0002g0156 a0001c0001t0004g0001 others(56): Show |
59 | 142 | 0.4155 | 5 | c.111 others(24): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 12/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151865784 | C | CTTTCT | intron_variant | MODIFIER | HG00735.hp2 HG01257.hp2 HG02148.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0022a0001c0001t0025a0001c0002t0002others(4): Show | a0001c0001t0022g0141 a0001c0001t0025g0227 a0001c0002t0002g0065 others(12): Show |
15 | 229 | 0.0655 | 5 | c.758 others(22): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 9/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151876734 | G | GACTAA | intron_variant | MODIFIER | HG02145.hp2 HG02165.hp2 HG02280.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0031others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0225 others(16): Show |
19 | 35 | 0.5429 | 5 | c.391 others(20): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 4/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152029507 | A | AAAAAG | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00642.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0035 others(32): Show |
35 | 220 | 0.1591 | 5 | c.147 others(24): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152088183 | A | ACACAC | intron_variant | MODIFIER | HG02698.hp1 NA18944.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0002t0003 | a0001c0001t0018g0196 a0001c0002t0003g0152 |
2 | 230 | 0.0087 | 5 | c.147 others(24): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNG1_chr17_67039554_67061797 | 67046655 | T | TGGGCA | intron_variant | MODIFIER | HG02735.hp1 HG03654.hp2 NA19030.hp2 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0005a0004c0008t0005 | a0001c0001t0001g0052 a0001c0001t0005g0054 a0004c0008t0005g0055 |
3 | 423 | 0.0071 | 5 | c.229 others(22): Show |
CACNG1 | ENSG00000108878.5 | transcript | ENST00000226021.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36666423 | A | ATTAAT | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00735.hp1 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0036 others(78): Show |
81 | 212 | 0.3821 | 5 | c.211 others(24): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36684615 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG01496.hp1 HG01943.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0027others(9): Show | a0001c0001t0001g0023 a0001c0001t0018g0035 a0001c0001t0027g0074 others(9): Show |
12 | 99 | 0.1212 | 5 | c.211 others(24): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG3_chr16_24251335_24367412 | 24280821 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00639.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0096 a0001c0001t0001g0202 a0001c0001t0001g0204 others(39): Show |
43 | 120 | 0.3583 | 5 | c.211 others(24): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24297249 | A | AAAAAT | intron_variant | MODIFIER | HG01175.hp2 HG01496.hp2 HG02056.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(15): Show |
18 | 364 | 0.0495 | 5 | c.211 others(24): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |