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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1D_chr3_53489611_53818733 | 53679270 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01884.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0009a0001c0002t0030a0001c0003t0023 | a0001c0002t0009g0107a0001c0002t0009g0210a0001c0002t0030g0196others(1): Show | 4 | 210 | 0.0191 | -15 | c.122 others(34): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1157968 | GCCTTGCC others(8): Show |
G | intron_variant | MODIFIER | HG02083.hp1 NA19081.hp2 |
a0001a0024 | a0001c0001a0024c0037 | a0001c0001t0001a0024c0037t0004 | a0001c0001t0001g0231a0024c0037t0004g0280 | 2 | 338 | 0.0059 | -15 | c.299 others(32): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39566104 | TTGGTGGT others(8): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0154 | 1 | 236 | 0.0042 | -15 | c.-46 others(26): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4648 | chr22 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82000771 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02809.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0002a0001c0004t0003 | a0001c0003t0001g0011a0001c0003t0001g0025a0001c0003t0001g0061others(3): Show | 6 | 144 | 0.0417 | -15 | c.159 others(34): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 18/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82060210 | TAATATAT others(8): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0082 | 1 | 144 | 0.0069 | -15 | c.879 others(30): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82146983 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0089 | 1 | 144 | 0.0069 | -15 | c.355 others(34): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82322125 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03041.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0016 | a0001c0001t0004g0079a0001c0001t0007g0081a0001c0001t0016g0019 | 3 | 144 | 0.0208 | -15 | c.294 others(34): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54265646 | GTATATAT others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01070.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0016a0001c0001t0001g0024a0001c0001t0001g0034others(49): Show | 52 | 118 | 0.4407 | -15 | c.205 others(34): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54276585 | AAAAAAGA others(8): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0050 | 1 | 118 | 0.0085 | -15 | c.205 others(34): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54350971 | TTTTTTTT others(8): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01192.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(6): Show | a0001c0001t0001g0034a0001c0002t0001g0004a0001c0004t0001g0031others(6): Show | 9 | 118 | 0.0763 | -15 | c.321 others(34): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54702382 | ATAAGGAA others(8): Show |
A | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0076 | 1 | 118 | 0.0085 | -15 | c.116 others(36): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54811465 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0090 | 1 | 118 | 0.0085 | -15 | c.138 others(34): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54852972 | TGCAATTC others(8): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01106.hp1 HG01243.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0029a0001c0001t0001g0034a0001c0001t0001g0104others(11): Show | 14 | 118 | 0.1186 | -15 | c.162 others(34): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54898162 | CTTTCTTT others(8): Show |
C | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0016 | a0001c0016t0005 | a0001c0016t0005g0116 | 1 | 118 | 0.0085 | -15 | c.236 others(34): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 26/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54998713 | TTTTTGTT others(8): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01123.hp1 HG01123.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0009others(2): Show | a0001c0002t0001a0001c0003t0006a0001c0009t0008others(2): Show | a0001c0002t0001g0004a0001c0003t0006g0064a0001c0009t0008g0077others(2): Show | 5 | 118 | 0.0424 | -15 | c.269 others(34): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D4_chr12_1786963_1923652 | 1787947 | CTGACAGA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0239 | 1 | 318 | 0.0031 | -15 | c.*56 others(26): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 4015 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1822830 | GCTGTGGC others(8): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02965.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0008a0001c0002t0008a0001c0003t0008others(2): Show | a0001c0001t0008g0165a0001c0002t0008g0213a0001c0003t0008g0303others(2): Show | 5 | 318 | 0.0157 | -15 | c.255 others(36): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 26/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1915147 | TGCATACA others(8): Show |
T | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0201 | 1 | 318 | 0.0031 | -15 | c.228 others(30): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 1/37 | chr12 | TogoVar | ||||||
CACNB1_chr17_39168453_39202669 | 39197694 | TCAGCATC others(8): Show |
T | upstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 396 | 0.0025 | -15 | c.-21 others(24): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 26 | chr17 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18171521 | GAAAAAAA others(8): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG02647.hp1 HG02723.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0006g0005a0001c0001t0007g0182a0001c0001t0008g0007others(5): Show | 8 | 200 | 0.0400 | -15 | c.213 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18181562 | TTTTTATT others(8): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG02622.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0045a0001c0001t0001g0131a0001c0001t0001g0133others(10): Show | 13 | 200 | 0.0650 | -15 | c.213 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18286517 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02145.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0025a0001c0001t0001g0048a0001c0001t0001g0058others(13): Show | 16 | 200 | 0.0800 | -15 | c.214 others(36): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18347344 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 200 | 0.0050 | -15 | c.214 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18433873 | TTTGTTGT others(8): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG01257.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0025a0001c0001t0001g0036a0001c0001t0001g0045others(26): Show | 29 | 200 | 0.1450 | -15 | c.333 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18472221 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02083.hp1 HG02523.hp1 HG03491.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0018 | a0001c0001t0001g0114a0001c0001t0001g0127a0001c0001t0004g0163others(1): Show | 4 | 200 | 0.0200 | -15 | c.334 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18522877 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01516.hp2 NA20805.hp2 |
a0002 | a0002c0003 | a0002c0003t0014a0002c0003t0056 | a0002c0003t0014g0073a0002c0003t0056g0053 | 2 | 200 | 0.0100 | -15 | c.944 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18347344 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 302 | 0.0033 | -15 | c.51+ others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18433873 | TTTGTTGT others(8): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01074.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(11): Show | a0001c0001t0001g0027a0001c0001t0001g0033a0001c0001t0001g0034others(47): Show | 50 | 302 | 0.1656 | -15 | c.171 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18472221 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02083.hp2 HG03491.hp2 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0134a0001c0001t0001g0173a0001c0001t0003g0257 | 3 | 302 | 0.0099 | -15 | c.172 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18522877 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp1 HG03710.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0009a0002c0003t0018a0002c0003t0035 | a0002c0003t0009g0042a0002c0003t0018g0211a0002c0003t0018g0266others(1): Show | 4 | 302 | 0.0133 | -15 | c.782 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB4_chr2_151827771_152104044 | 151921170 | TAAATAAA others(8): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00733.hp2 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0025a0001c0001t0001g0165a0001c0001t0002g0014others(43): Show | 46 | 230 | 0.2000 | -15 | c.148 others(34): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36564201 | GTGTTTTT others(8): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0094 | 1 | 214 | 0.0047 | -15 | c.*13 others(24): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 4/4 | 135 | chr22 | TogoVar | |||||
CACNG2_chr22_36555857_36708752 | 36661966 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01516.hp2 HG01884.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(24): Show | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0035others(33): Show | 36 | 214 | 0.1682 | -15 | c.211 others(34): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36689688 | TCCTGCAG others(8): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0006 | 1 | 214 | 0.0047 | -15 | c.211 others(34): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24257367 | GGGAGAGA others(8): Show |
G | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 366 | 0.0027 | -15 | c.211 others(30): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNG3_chr16_24251335_24367412 | 24302635 | TTTTTGTT others(8): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 366 | 0.0027 | -15 | c.212 others(34): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNG3_chr16_24251335_24367412 | 24317623 | AAAGACAG others(8): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0088a0001c0001t0003g0127 | 2 | 366 | 0.0055 | -15 | c.212 others(34): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNG3_chr16_24251335_24367412 | 24327126 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 366 | 0.0027 | -15 | c.212 others(34): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNG4_chr17_66959707_67038398 | 66964439 | GGAGGGGA others(8): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00733.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0196a0001c0001t0001g0203a0001c0001t0001g0212others(22): Show | 25 | 352 | 0.0710 | -15 | c.-47 others(24): Show |
CACNG4 | ENSG00000075461.6 | transcript | ENST00000262138.4 | protein_coding | 267 | chr17 | TogoVar | ||||||
CACNG4_chr17_66959707_67038398 | 66964447 | GGGGAGGC others(8): Show |
G | upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 | 1 | 352 | 0.0028 | -15 | c.-46 others(24): Show |
CACNG4 | ENSG00000075461.6 | transcript | ENST00000262138.4 | protein_coding | 259 | chr17 | TogoVar | ||||||
CACNG6_chr19_53986637_54017666 | 54004334 | TTTGTGTG others(8): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02818.hp2 HG02896.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0006a0004c0011 | a0001c0001t0003a0001c0001t0020a0004c0006t0002others(1): Show | a0001c0001t0003g0173a0001c0001t0020g0263a0004c0006t0002g0153others(2): Show | 5 | 430 | 0.0116 | -15 | c.544 others(32): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG6_chr19_53986637_54017666 | 54005751 | TTAAAATA others(8): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0222a0001c0001t0006g0256 | 2 | 430 | 0.0047 | -15 | c.544 others(32): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG6_chr19_53986637_54017666 | 54006851 | GTTATTTT others(8): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0222 | 1 | 430 | 0.0023 | -15 | c.545 others(32): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG7_chr19_53904278_53948950 | 53910513 | TGATTAGT others(8): Show |
T | intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 364 | 0.0028 | -15 | c.-30 others(31): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACTIN_chr19_3605645_3631790 | 3609729 | CACTCTGG others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01175.hp2 NA20805.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0001 | 3 | 408 | 0.0074 | -15 | c.*21 others(26): Show |
CACTIN | ENSG00000105298.14 | transcript | ENST00000429344.7 | protein_coding | 915 | chr19 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115222603 | ATAGTACT others(8): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01192.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0002g0107a0001c0001t0004g0076a0001c0001t0004g0089others(17): Show | 20 | 164 | 0.1220 | -15 | c.722 others(32): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 5/11 | chr11 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115295530 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015a0001c0001t0018others(3): Show | a0001c0001t0007g0106a0001c0001t0015g0048a0001c0001t0015g0067others(5): Show | 8 | 164 | 0.0488 | -15 | c.125 others(34): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115295531 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02976.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0117a0001c0001t0021g0100 | 2 | 164 | 0.0122 | -15 | c.125 others(34): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115295535 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0074 | 1 | 164 | 0.0061 | -15 | c.125 others(34): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115373594 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 164 | 0.0061 | -15 | c.124 others(36): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar |