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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNB1_chr17_39168453_39202669 | 39172738 | TACACAC | T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00639.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0044 a0001c0001t0001g0072 others(26): Show |
31 | 396 | 0.0783 | -6 | c.*24 others(17): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 714 | chr17 | TogoVar | |||||||
CACNB1_chr17_39168453_39202669 | 39183337 | AAAGAAG | A | intron_variant | MODIFIER | HG01993.hp1 HG02258.hp2 HG02451.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0220 a0001c0001t0003g0135 a0001c0001t0003g0146 others(17): Show |
20 | 396 | 0.0505 | -6 | c.105 others(23): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 11/13 | chr17 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18152727 | AAAAAAC | A | intron_variant | MODIFIER | HG00741.hp1 HG02280.hp1 HG02300.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0003g0172 others(4): Show |
7 | 200 | 0.0350 | -6 | c.213 others(23): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18153216 | GGTAAAT | G | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp1 HG01074.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(28): Show |
31 | 200 | 0.1550 | -6 | c.213 others(23): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18171521 | GAAAAAA | G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00609.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 others(27): Show |
30 | 200 | 0.1500 | -6 | c.213 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18220110 | AATATAT | A | intron_variant | MODIFIER | HG01993.hp1 HG03942.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0045 | a0001c0001t0001g0045 a0001c0001t0001g0190 a0001c0001t0045g0128 |
3 | 200 | 0.0150 | -6 | c.213 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18220150 | TATATAC | T | intron_variant | MODIFIER | HG01433.hp1 HG02523.hp1 HG02896.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0018a0001c0001t0032others(4): Show | a0001c0001t0001g0096 a0001c0001t0001g0127 a0001c0001t0018g0014 others(6): Show |
9 | 200 | 0.0450 | -6 | c.213 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18220228 | TATATAG | T | intron_variant | MODIFIER | HG01978.hp2 HG02886.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0009a0001c0004t0038 | a0001c0001t0009g0052 a0001c0004t0038g0139 |
2 | 200 | 0.0100 | -6 | c.213 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18220232 | TAGAGAG | T | intron_variant | MODIFIER | HG02717.hp1 HG03195.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0025 a0001c0002t0002g0004 a0001c0002t0002g0146 |
3 | 200 | 0.0150 | -6 | c.213 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18280215 | ATTACAT | A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(50): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0079 others(50): Show |
53 | 200 | 0.2650 | -6 | c.214 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18290112 | CTTTTTT | C | intron_variant | MODIFIER | HG01071.hp1 HG02451.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0008a0001c0001t0021others(2): Show | a0001c0001t0007g0088 a0001c0001t0008g0083 a0001c0001t0021g0060 others(4): Show |
7 | 200 | 0.0350 | -6 | c.214 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18335784 | AACACAC | A | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01074.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0037 a0001c0001t0001g0066 a0001c0001t0001g0096 others(16): Show |
19 | 200 | 0.0950 | -6 | c.214 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18358497 | GCTCTCT | G | intron_variant | MODIFIER | HG00741.hp1 HG01361.hp1 HG02257.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0012a0001c0001t0018others(2): Show | a0001c0001t0003g0072 a0001c0001t0012g0135 a0001c0001t0018g0011 others(2): Show |
5 | 200 | 0.0250 | -6 | c.214 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18358547 | TCTCTCG | T | intron_variant | MODIFIER | HG01257.hp1 HG02056.hp2 NA18985.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0045 a0001c0001t0001g0098 a0001c0001t0001g0143 others(1): Show |
4 | 200 | 0.0200 | -6 | c.214 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18398686 | CACACAT | C | intron_variant | MODIFIER | HG03041.hp1 HG06807.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0108 a0001c0002t0002g0142 a0001c0002t0002g0185 |
3 | 200 | 0.0150 | -6 | c.214 others(23): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18432450 | CTGTGTG | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(65): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0037 others(65): Show |
68 | 200 | 0.3400 | -6 | c.333 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18433873 | TTTGTTG | T | intron_variant | MODIFIER | HG02148.hp2 HG03041.hp2 HG03225.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0002t0002a0001c0004t0010others(1): Show | a0001c0001t0003g0115 a0001c0002t0002g0179 a0001c0004t0010g0084 others(1): Show |
4 | 200 | 0.0200 | -6 | c.333 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18438002 | ATTTTTT | A | intron_variant | MODIFIER | HG01243.hp1 HG01257.hp1 HG01358.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0048 others(19): Show |
22 | 200 | 0.1100 | -6 | c.333 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18463599 | TTTTTTG | T | intron_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG01074.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(8): Show | a0001c0001t0001g0034 a0001c0001t0001g0067 a0001c0001t0001g0127 others(17): Show |
20 | 200 | 0.1000 | -6 | c.334 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18472221 | CTTTTTT | C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0015 | a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0096 others(2): Show |
5 | 200 | 0.0250 | -6 | c.334 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18495545 | CTGTGTG | C | intron_variant | MODIFIER | HG01243.hp1 HG01978.hp1 HG02083.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0018a0001c0002t0002others(2): Show | a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0096 others(4): Show |
7 | 200 | 0.0350 | -6 | c.334 others(23): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18524121 | CTTCAGA | C | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 |
a0001 | a0001c0005 | a0001c0005t0022 | a0001c0005t0022g0090 a0001c0005t0022g0186 |
2 | 200 | 0.0100 | -6 | c.945 others(23): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18540333 | AATATAT | A | 3_prime_UTR_variant | MODIFIER | HG01192.hp1 HG02055.hp1 HG02109.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0033a0001c0001t0035others(3): Show | a0001c0001t0006g0005 a0001c0001t0006g0017 a0001c0001t0006g0023 others(8): Show |
11 | 200 | 0.0550 | -6 | c.*61 others(15): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 14/14 | 618 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18335784 | AACACAC | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00642.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0037 others(23): Show |
26 | 302 | 0.0861 | -6 | c.-51 others(17): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 4924 | chr10 | TogoVar | |||||||
CACNB2_chr10_18335709_18548557 | 18338677 | CCTTCCT | C | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01257.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0033a0001c0002t0002 | a0001c0001t0001g0077 a0001c0001t0033g0085 a0001c0002t0002g0293 |
3 | 302 | 0.0099 | -6 | c.-22 others(17): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2031 | chr10 | TogoVar | |||||||
CACNB2_chr10_18335709_18548557 | 18358497 | GCTCTCT | G | intron_variant | MODIFIER | HG00558.hp1 HG00741.hp1 HG01256.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(4): Show | a0001c0001t0001g0047 a0001c0001t0001g0129 a0001c0001t0003g0052 others(7): Show |
10 | 302 | 0.0331 | -6 | c.51+ others(23): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18358547 | TCTCTCG | T | intron_variant | MODIFIER | HG01257.hp1 HG02056.hp2 NA18977.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0004 | a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0142 others(3): Show |
6 | 302 | 0.0199 | -6 | c.51+ others(23): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18398686 | CACACAT | C | intron_variant | MODIFIER | HG00639.hp2 HG01515.hp2 HG03041.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0030a0001c0002t0002others(2): Show | a0001c0001t0003g0051 a0001c0001t0030g0071 a0001c0002t0002g0246 others(3): Show |
6 | 302 | 0.0199 | -6 | c.52- others(21): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18432450 | CTGTGTG | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(88): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(29): Show | a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 others(88): Show |
91 | 302 | 0.3013 | -6 | c.171 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18433873 | TTTGTTG | T | intron_variant | MODIFIER | HG02148.hp1 HG03041.hp1 HG03225.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0002t0002a0001c0004t0008others(1): Show | a0001c0001t0003g0269 a0001c0002t0002g0293 a0001c0004t0008g0201 others(1): Show |
4 | 302 | 0.0133 | -6 | c.171 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18438002 | ATTTTTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01243.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(11): Show | a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 others(37): Show |
40 | 302 | 0.1325 | -6 | c.171 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18463599 | TTTTTTG | T | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00738.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(9): Show | a0001c0001t0001g0139 a0001c0001t0001g0174 a0001c0001t0001g0299 others(31): Show |
34 | 302 | 0.1126 | -6 | c.172 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18472221 | CTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01884.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0001t0045others(1): Show | a0001c0001t0001g0027 a0001c0001t0001g0063 a0001c0001t0001g0245 others(4): Show |
7 | 302 | 0.0232 | -6 | c.172 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18495545 | CTGTGTG | C | intron_variant | MODIFIER | HG01243.hp1 HG01978.hp1 HG02083.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(3): Show | a0001c0001t0001g0027 a0001c0001t0001g0063 a0001c0001t0003g0257 others(4): Show |
7 | 302 | 0.0232 | -6 | c.172 others(23): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18540333 | AATATAT | A | 3_prime_UTR_variant | MODIFIER | HG01192.hp1 HG02055.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0024a0001c0001t0025others(1): Show | a0001c0001t0005g0012 a0001c0001t0005g0065 a0001c0001t0005g0090 others(8): Show |
11 | 302 | 0.0364 | -6 | c.*61 others(15): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 13/13 | 618 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB4_chr2_151827771_152104044 | 151868771 | GACACAC | G | intron_variant | MODIFIER | HG00735.hp2 HG01257.hp2 HG02683.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0015a0001c0003t0007others(1): Show | a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0140 others(9): Show |
12 | 230 | 0.0522 | -6 | c.758 others(21): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 9/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151900987 | CTTTCTT | C | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG01516.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(5): Show | a0001c0001t0001g0118 a0001c0001t0001g0154 a0001c0001t0006g0085 others(6): Show |
9 | 230 | 0.0391 | -6 | c.148 others(25): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151920300 | TTTCTTC | T | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG01361.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0001g0133 a0001c0001t0001g0163 a0001c0001t0001g0173 others(41): Show |
44 | 230 | 0.1913 | -6 | c.148 others(25): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 151983675 | TCACACA | T | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01496.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0117 others(4): Show |
7 | 230 | 0.0304 | -6 | c.148 others(27): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152004532 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00639.hp1 others(89): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 others(89): Show |
92 | 230 | 0.4000 | -6 | c.147 others(25): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152018806 | AACACAC | A | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp1 HG02896.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0002g0214 a0001c0001t0004g0086 a0001c0001t0004g0223 others(6): Show |
9 | 230 | 0.0391 | -6 | c.147 others(25): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152088164 | CACACAT | C | intron_variant | MODIFIER | HG02486.hp1 HG03225.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0006a0001c0002t0002 | a0001c0001t0004g0223 a0001c0001t0006g0216 a0001c0002t0002g0224 |
3 | 230 | 0.0130 | -6 | c.147 others(25): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152091043 | CAAAAAA | C | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp1 HG02922.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0005g0141 others(6): Show |
9 | 230 | 0.0391 | -6 | c.147 others(23): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36574794 | ACAAAAC | A | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00735.hp1 others(104): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0023 others(103): Show |
107 | 214 | 0.5000 | -6 | c.296 others(23): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 2/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36579404 | CAAAAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01070.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0033others(2): Show | a0001c0001t0001g0090 a0001c0001t0003g0167 a0001c0001t0003g0170 others(3): Show |
6 | 214 | 0.0280 | -6 | c.295 others(23): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 2/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36627279 | CGTGTGT | C | intron_variant | MODIFIER | HG01169.hp2 HG02257.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0061 | a0001c0001t0013g0180 a0001c0001t0013g0181 a0001c0001t0061g0115 |
3 | 214 | 0.0140 | -6 | c.212 others(25): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36699237 | TCACACA | T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00558.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 others(13): Show |
16 | 214 | 0.0748 | -6 | c.211 others(23): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36703238 | AGCGGCG | A | 5_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0050a0001c0001t0051 | a0001c0001t0050g0096 a0001c0001t0051g0095 |
2 | 214 | 0.0094 | -6 | c.-66 others(15): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/4 | 663 | chr22 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36706194 | CCTCCTT | C | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0027 | a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0027g0061 |
3 | 214 | 0.0140 | -6 | c.-36 others(17): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 2443 | chr22 | TogoVar | |||||||
CACNG3_chr16_24251335_24367412 | 24257368 | GGAGAGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 others(19): Show |
22 | 366 | 0.0601 | -6 | c.211 others(21): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |