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 | 53517194 | TCTAATCC others(21): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(169): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(98): Show | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0136others(169): Show | 172 | 210 | 0.8191 | -28 | c.483 others(47): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D2_chr3_50357613_50508634 | 50468379 | TAGTGTGT others(21): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0149a0001c0001t0006g0006a0001c0001t0006g0007 | 3 | 234 | 0.0128 | -28 | c.288 others(45): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54646132 | TTCCTTCC others(21): Show |
T | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0009 | a0001c0009t0008 | a0001c0009t0008g0077 | 1 | 118 | 0.0085 | -28 | c.116 others(47): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54646176 | CTCCCTCC others(21): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG02615.hp1 |
a0001 | a0001c0029a0001c0034 | a0001c0029t0001a0001c0034t0001 | a0001c0029t0001g0096a0001c0034t0001g0086 | 2 | 118 | 0.0170 | -28 | c.116 others(47): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54646180 | CTCCCTCC others(21): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 118 | 0.0085 | -28 | c.116 others(47): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54811465 | CTTTTTTT others(21): Show |
C | intron_variant | MODIFIER | NA18906.hp2 NA21309.hp1 |
a0001 | a0001c0003a0001c0013 | a0001c0003t0001a0001c0013t0001 | a0001c0003t0001g0026a0001c0013t0001g0093 | 2 | 118 | 0.0170 | -28 | c.138 others(47): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54822783 | TTTCTTTC others(21): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 118 | 0.0085 | -28 | c.139 others(47): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54933051 | CCCTTCCT others(21): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02965.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0013a0001c0025a0001c0026others(1): Show | a0001c0013t0001a0001c0025t0004a0001c0026t0009others(1): Show | a0001c0013t0001g0093a0001c0013t0001g0105a0001c0025t0004g0106others(2): Show | 5 | 118 | 0.0424 | -28 | c.244 others(49): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18358525 | TCTCTCTC others(21): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0063 | 1 | 200 | 0.0050 | -28 | c.214 others(47): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18442930 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01069.hp2 HG01109.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0079a0001c0001t0001g0117a0001c0001t0003g0144others(6): Show | 9 | 200 | 0.0450 | -28 | c.333 others(47): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18481192 | CTATATAT others(21): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01243.hp1 HG03942.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0045a0001c0002t0060 | a0001c0001t0001g0037a0001c0001t0001g0048a0001c0001t0045g0128others(1): Show | 4 | 200 | 0.0200 | -28 | c.334 others(47): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18481204 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG03486.hp2 HG03704.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0041others(1): Show | a0001c0001t0001g0036a0001c0001t0001g0197a0001c0001t0004g0150others(4): Show | 7 | 200 | 0.0350 | -28 | c.334 others(47): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18481206 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | NA19070.hp1 NA20129.hp2 NA20805.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0014 | a0001c0001t0001g0049a0001c0001t0001g0132a0002c0003t0014g0073 | 3 | 200 | 0.0150 | -28 | c.334 others(47): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18481208 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0025a0001c0001t0006g0005 | 2 | 200 | 0.0100 | -28 | c.334 others(47): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18358525 | TCTCTCTC others(21): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG02738.hp2 HG03540.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0007a0002c0003t0036 | a0001c0001t0001g0014a0001c0001t0007g0204a0002c0003t0036g0278 | 3 | 302 | 0.0099 | -28 | c.51+ others(45): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18442930 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01069.hp2 HG01109.hp2 others(11): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(3): Show | a0001c0001t0001g0008a0001c0001t0001g0024a0001c0001t0001g0168others(10): Show | 14 | 302 | 0.0464 | -28 | c.171 others(47): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18481192 | CTATATAT others(21): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00735.hp2 HG01243.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0033a0001c0001t0055others(1): Show | a0001c0001t0001g0025a0001c0001t0001g0027a0001c0001t0033g0085others(2): Show | 5 | 302 | 0.0166 | -28 | c.172 others(47): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18481204 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG02027.hp2 HG03486.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0001t0037others(1): Show | a0001c0001t0001g0021a0001c0001t0001g0033a0001c0001t0001g0034others(10): Show | 13 | 302 | 0.0431 | -28 | c.172 others(47): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18481206 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | NA18986.hp1 NA19070.hp2 NA20129.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0019a0002c0003t0009 | a0001c0001t0001g0192a0001c0001t0001g0226a0001c0001t0019g0116others(1): Show | 4 | 302 | 0.0133 | -28 | c.172 others(47): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18481208 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0076a0001c0001t0005g0188 | 2 | 302 | 0.0066 | -28 | c.172 others(47): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB4_chr2_151827771_152104044 | 151895094 | CCCCACAC others(21): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0227 | 1 | 230 | 0.0044 | -28 | c.148 others(47): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNG4_chr17_66959707_67038398 | 66965184 | ACATATAC others(21): Show |
A | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0157 | 1 | 352 | 0.0028 | -28 | c.220 others(41): Show |
CACNG4 | ENSG00000075461.6 | transcript | ENST00000262138.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CACNG7_chr19_53904278_53948950 | 53921458 | TATTGCTG others(21): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG03209.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0008a0001c0001t0001g0022a0001c0001t0004g0354 | 3 | 364 | 0.0082 | -28 | c.424 others(45): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG7_chr19_53904278_53948950 | 53921795 | TCCCCAGG others(21): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 364 | 0.0028 | -28 | c.424 others(45): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG7_chr19_53904278_53948950 | 53922078 | TATTGGTG others(21): Show |
T | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 364 | 0.0028 | -28 | c.424 others(45): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG7_chr19_53904278_53948950 | 53922213 | TATTGGTG others(21): Show |
T | intron_variant | MODIFIER | NA18953.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168a0001c0001t0001g0341 | 2 | 364 | 0.0055 | -28 | c.424 others(45): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG7_chr19_53904278_53948950 | 53922295 | TATTGGTG others(21): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02896.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0016 | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0050others(7): Show | 11 | 364 | 0.0302 | -28 | c.424 others(45): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG7_chr19_53904278_53948950 | 53922317 | TCTGGTCA others(21): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG00738.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0172a0001c0001t0001g0245others(27): Show | 31 | 364 | 0.0852 | -28 | c.424 others(45): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG7_chr19_53904278_53948950 | 53922608 | TCCCAGGC others(21): Show |
T | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 364 | 0.0028 | -28 | c.424 others(45): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG7_chr19_53904278_53948950 | 53923635 | GTCTGGTC others(21): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG01978.hp1 HG02027.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0196a0001c0001t0001g0197a0001c0001t0001g0198others(7): Show | 10 | 364 | 0.0275 | -28 | c.424 others(45): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115400657 | GTGTGTAT others(21): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG02451.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0035 | a0001c0001t0001g0062a0001c0001t0014g0099a0001c0001t0035g0082 | 3 | 164 | 0.0183 | -28 | c.124 others(49): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115400659 | GTGTATAT others(21): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG02165.hp1 HG02486.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0093a0001c0001t0001g0144a0001c0001t0001g0149others(17): Show | 20 | 164 | 0.1220 | -28 | c.124 others(49): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115400661 | GTATATAT others(21): Show |
G | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0151 | 1 | 164 | 0.0061 | -28 | c.124 others(49): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85014094 | AATTGTAT others(21): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0106 | 1 | 146 | 0.0069 | -28 | c.61+ others(45): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85321112 | ATATATTT others(21): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02965.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0003t0026 | a0001c0001t0008g0013a0001c0001t0008g0014a0001c0003t0026g0015 | 3 | 146 | 0.0206 | -28 | c.61+ others(47): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85321114 | ATATTTTT others(21): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 146 | 0.0069 | -28 | c.61+ others(47): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85336955 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0054 | 1 | 146 | 0.0069 | -28 | c.61+ others(47): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85442588 | GTATATAT others(21): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01074.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0115a0001c0001t0001g0125a0001c0001t0002g0048others(11): Show | 14 | 146 | 0.0959 | -28 | c.62- others(47): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85543229 | TTTTTATT others(21): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0018a0001c0001t0002g0137a0001c0001t0005g0128others(3): Show | 6 | 146 | 0.0411 | -28 | c.62- others(47): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADPS2_chr7_122313411_122891460 | 122323873 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01070.hp2 HG01167.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0002others(4): Show | a0001c0001t0002g0006a0001c0001t0002g0008a0001c0001t0002g0028others(25): Show | 28 | 126 | 0.2222 | -28 | c.371 others(47): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 29/29 | chr7 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122708520 | GATATATA others(21): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01109.hp2 others(53): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(53): Show | 56 | 126 | 0.4444 | -28 | c.453 others(47): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | ||||||
CAGE1_chr6_7321659_7394742 | 7358025 | GAGATATA others(21): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229a0001c0001t0001g0230a0001c0001t0001g0231others(5): Show | 8 | 360 | 0.0222 | -28 | c.219 others(47): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 9/13 | chr6 | TogoVar | ||||||
CALCRL_chr2_187336964_187453252 | 187341096 | CATATATA others(21): Show |
C | downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0303 | 1 | 344 | 0.0029 | -28 | c.*50 others(39): Show |
CALCRL | ENSG00000064989.13 | transcript | ENST00000392370.8 | protein_coding | 867 | chr2 | TogoVar | ||||||
CALCR_chr7_93419486_93579724 | 93576491 | TACACACA others(21): Show |
T | upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 292 | 0.0034 | -28 | c.-20 others(39): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 1768 | chr7 | TogoVar | ||||||
CALHM5_chr6_116506639_116529788 | 116516660 | AATATATA others(21): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(108): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033a0001c0001t0034others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0033g0001others(11): Show | 111 | 402 | 0.2761 | -28 | c.*69 others(37): Show |
CALHM5 | ENSG00000178033.6 | transcript | ENST00000368599.4 | protein_coding | 2/2 | 693 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
CALN1_chr7_71774491_72417338 | 71798083 | GAGAGACA others(21): Show |
G | intron_variant | MODIFIER | HG01934.hp2 HG02055.hp1 HG02080.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0002g0048a0001c0001t0005g0012a0001c0001t0006g0017others(4): Show | 7 | 142 | 0.0493 | -28 | c.659 others(47): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 6/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 71924220 | GGATTAGG others(21): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(21): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0037others(38): Show | 41 | 142 | 0.2887 | -28 | c.501 others(47): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 5/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72106702 | AAGGGAGG others(21): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00639.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0051a0001c0001t0001g0075a0001c0001t0001g0092others(33): Show | 36 | 142 | 0.2535 | -28 | c.245 others(43): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72317048 | GAGAAAGA others(21): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0060 | 1 | 142 | 0.0070 | -28 | c.120 others(47): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 2/6 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72387246 | GAGGGAGG others(21): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0002 | 1 | 142 | 0.0070 | -28 | c.119 others(47): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 2/6 | chr7 | TogoVar |