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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA2D1_chr7_81941444_82448777 | 82099422 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0110 |
3 | 62 | 0.0484 | -24 | c.527 others(43): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82291148 | ATATAATT others(17): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0016 a0001c0001t0004g0074 a0001c0001t0005g0105 others(12): Show |
15 | 123 | 0.1220 | -24 | c.294 others(43): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54149912 | TCTCTCTC others(17): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02717.hp2 HG03453.hp1 |
a0001 | a0001c0004a0001c0005a0001c0039 | a0001c0004t0001a0001c0005t0001a0001c0039t0001 | a0001c0004t0001g0022 a0001c0005t0001g0088 a0001c0039t0001g0047 |
3 | 115 | 0.0261 | -24 | c.204 others(43): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54646128 | TTCCTTCC others(17): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp2 HG01106.hp1 others(6): Show |
a0001 | a0001c0003a0001c0004a0001c0006others(1): Show | a0001c0003t0001a0001c0003t0006a0001c0004t0002others(2): Show | a0001c0003t0001g0011 a0001c0003t0001g0038 a0001c0003t0001g0054 others(6): Show |
9 | 116 | 0.0776 | -24 | c.116 others(43): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54646180 | CTCCCTCC others(17): Show |
C | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0062 | 1 | 112 | 0.0089 | -24 | c.116 others(43): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54646184 | CTCCTTCC others(17): Show |
C | intron_variant | MODIFIER | HG03225.hp1 HG06807.hp2 |
a0001 | a0001c0006a0001c0030 | a0001c0006t0001a0001c0030t0001 | a0001c0006t0001g0017 a0001c0030t0001g0028 |
2 | 72 | 0.0278 | -24 | c.116 others(43): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54763802 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0055 | 1 | 113 | 0.0088 | -24 | c.124 others(41): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54811465 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 2 | 0.5000 | -24 | c.138 others(43): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54822820 | TTTCTTTC others(17): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02976.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0005a0001c0037 | a0001c0001t0012a0001c0005t0003a0001c0037t0004 | a0001c0001t0012g0063 a0001c0005t0003g0055 a0001c0037t0004g0019 |
3 | 111 | 0.0270 | -24 | c.139 others(43): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54871043 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG01106.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0046 others(16): Show |
19 | 21 | 0.9048 | -24 | c.162 others(41): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54933043 | CCATCCCT others(17): Show |
C | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 111 | 0.0090 | -24 | c.244 others(45): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54933051 | CCCTTCCT others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01070.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(14): Show | a0001c0001t0001g0083 a0001c0003t0001g0101 a0001c0005t0001g0005 others(18): Show |
21 | 50 | 0.4200 | -24 | c.244 others(45): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18358497 | GCTCTCTC others(17): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0002t0002a0001c0005t0011 | a0001c0001t0003g0064 a0001c0002t0002g0050 a0001c0005t0011g0186 |
3 | 132 | 0.0227 | -24 | c.214 others(43): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18442962 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 200 | 0.0050 | -24 | c.333 others(43): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481192 | CTATATAT others(17): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02109.hp1 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0039 | a0001c0001t0006g0023 a0001c0001t0006g0028 a0001c0001t0039g0021 |
3 | 163 | 0.0184 | -24 | c.334 others(43): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481212 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173 | 1 | 200 | 0.0050 | -24 | c.334 others(43): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481216 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 | 1 | 192 | 0.0052 | -24 | c.334 others(43): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481222 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0188 a0001c0001t0007g0189 |
2 | 198 | 0.0101 | -24 | c.334 others(43): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18358497 | GCTCTCTC others(17): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0002t0002a0001c0005t0012 | a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0002t0002g0210 others(1): Show |
4 | 190 | 0.0211 | -24 | c.51+ others(41): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18442962 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 300 | 0.0033 | -24 | c.171 others(43): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481192 | CTATATAT others(17): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02109.hp2 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0029 | a0001c0001t0005g0012 a0001c0001t0005g0236 a0001c0001t0029g0232 |
3 | 241 | 0.0124 | -24 | c.172 others(43): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481212 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0298 | 1 | 298 | 0.0034 | -24 | c.172 others(43): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481216 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02486.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208 a0001c0001t0003g0209 |
2 | 290 | 0.0069 | -24 | c.172 others(43): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481222 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01891.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0010a0002c0003t0008others(1): Show | a0001c0001t0001g0014 a0001c0001t0010g0287 a0001c0001t0010g0289 others(2): Show |
5 | 296 | 0.0169 | -24 | c.172 others(43): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151921138 | AAAATAAA others(17): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0138 | 1 | 202 | 0.0050 | -24 | c.148 others(43): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36679181 | CCTTCCTT others(17): Show |
C | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 200 | 0.0050 | -24 | c.211 others(43): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG3_chr16_24251335_24367412 | 24257368 | GGAGAGAG others(17): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG03098.hp1 NA19004.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0188 others(1): Show |
4 | 103 | 0.0388 | -24 | c.211 others(39): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG4_chr17_66959707_67038398 | 66982249 | CTGCTGAT others(17): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02257.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0326 a0001c0001t0003g0325 a0001c0001t0005g0266 others(3): Show |
6 | 350 | 0.0171 | -24 | c.220 others(43): Show |
CACNG4 | ENSG00000075461.6 | transcript | ENST00000262138.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNG6_chr19_53986637_54017666 | 54015333 | CCCTTCCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01175.hp1 HG02056.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0002g0234 a0001c0001t0002g0340 a0001c0001t0003g0097 others(18): Show |
21 | 272 | 0.0772 | -24 | c.*31 others(35): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 2668 | chr19 | TogoVar | |||||||
CADM1_chr11_115164236_115509415 | 115328680 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG00741.hp1 others(26): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0055 others(26): Show |
29 | 164 | 0.1768 | -24 | c.125 others(43): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
CADM1_chr11_115164236_115509415 | 115404344 | AAAATATA others(17): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0142 | 1 | 161 | 0.0062 | -24 | c.124 others(43): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
CADM1_chr11_115164236_115509415 | 115404346 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | NA18969.hp2 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0041 | a0001c0001t0002g0093 a0001c0001t0041g0108 |
2 | 114 | 0.0175 | -24 | c.124 others(43): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
CADM2_chr3_84953989_86079429 | 85321116 | ATTTTTTT others(17): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG03130.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0001 a0001c0001t0002g0052 a0001c0001t0003g0092 |
3 | 67 | 0.0448 | -24 | c.61+ others(43): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85371677 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0077 | 1 | 92 | 0.0109 | -24 | c.62- others(43): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85573157 | TTTTATTT others(17): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(19): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0065 a0001c0001t0001g0103 a0001c0001t0002g0138 others(19): Show |
22 | 51 | 0.4314 | -24 | c.62- others(43): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85769481 | GTATATAC others(17): Show |
G | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp2 HG02293.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0020others(5): Show | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0070 others(13): Show |
16 | 126 | 0.1270 | -24 | c.89- others(41): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85769505 | ATATATAC others(17): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG02622.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0011a0001c0002t0016others(3): Show | a0001c0002t0007g0095 a0001c0002t0011g0012 a0001c0002t0011g0140 others(5): Show |
8 | 146 | 0.0548 | -24 | c.89- others(41): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85809658 | CCCTTCCT others(17): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02976.hp2 NA20129.hp2 |
a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0012 a0001c0002t0011g0140 a0001c0002t0011g0143 |
3 | 36 | 0.0833 | -24 | c.238 others(41): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122323873 | TTATATAT others(17): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG02809.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0004a0001c0002t0004a0001c0005t0004 | a0001c0001t0004g0099 a0001c0002t0004g0068 a0001c0002t0004g0102 others(2): Show |
5 | 28 | 0.1786 | -24 | c.371 others(43): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 29/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122399660 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 30 | 0.0333 | -24 | c.274 others(43): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 20/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122708520 | GATATATA others(17): Show |
G | intron_variant | MODIFIER | HG02895.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0045 a0001c0003t0001g0027 |
2 | 58 | 0.0345 | -24 | c.453 others(43): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | |||||||
CAGE1_chr6_7321659_7394742 | 7333630 | CTATCTAA others(17): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 355 | 0.0028 | -24 | c.243 others(41): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 12/13 | chr6 | TogoVar | |||||||
CAGE1_chr6_7321659_7394742 | 7345125 | ATCCATAT others(17): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(223): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0160 a0001c0001t0001g0173 a0001c0001t0001g0174 others(223): Show |
226 | 358 | 0.6313 | -24 | c.236 others(43): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 11/13 | chr6 | TogoVar | |||||||
CALCOCO2_chr17_48826035_48870245 | 48845371 | CTGTGTGT others(17): Show |
C | intron_variant | MODIFIER | HG02071.hp2 HG02280.hp1 HG02559.hp2 others(19): Show |
a0002a0004 | a0002c0003a0004c0004 | a0002c0003t0009a0002c0003t0028a0004c0004t0005others(2): Show | a0002c0003t0009g0148 a0002c0003t0009g0238 a0002c0003t0009g0239 others(19): Show |
22 | 74 | 0.2973 | -24 | c.181 others(41): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCRL_chr2_187336964_187453252 | 187341096 | CATATATA others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01255.hp2 HG02074.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0169 a0001c0001t0002g0246 a0001c0001t0002g0247 others(12): Show |
16 | 29 | 0.5517 | -24 | c.*50 others(35): Show |
CALCRL | ENSG00000064989.13 | transcript | ENST00000392370.8 | protein_coding | 867 | chr2 | TogoVar | |||||||
CALCRL_chr2_187336964_187453252 | 187442083 | TATATATA others(17): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG01256.hp2 HG02074.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0027a0001c0002t0005 | a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0310 others(14): Show |
17 | 342 | 0.0497 | -24 | c.-29 others(43): Show |
CALCRL | ENSG00000064989.13 | transcript | ENST00000392370.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
CALHM4_chr6_116548751_116566127 | 116563717 | GAGACAGG others(17): Show |
G | downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0013 | 1 | 406 | 0.0025 | -24 | c.*55 others(35): Show |
CALHM4 | ENSG00000164451.14 | transcript | ENST00000368596.4 | protein_coding | 2591 | chr6 | TogoVar | |||||||
CALHM5_chr6_116506639_116529788 | 116516660 | AATATATA others(17): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG02258.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0056 | a0001c0001t0002g0003 a0001c0001t0007g0013 a0001c0001t0007g0015 others(1): Show |
6 | 38 | 0.1579 | -24 | c.*69 others(33): Show |
CALHM5 | ENSG00000178033.6 | transcript | ENST00000368599.4 | protein_coding | 2/2 | 697 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CALM1_chr14_90392029_90413268 | 90404357 | AACAATTG others(17): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | NA19001.hp1 | a0002 | a0002c0003 | a0002c0003t0046 | a0002c0003t0046g0059 | 1 | 406 | 0.0025 | -24 | c.286 others(34): Show |
p.Asp others(11): Show |
CALM1 | ENSG00000198668.14 | transcript | ENST00000356978.9 | protein_coding | 5/6 | 286/450 | 96/149 | chr14 | TogoVar | ||||
CALN1_chr7_71774491_72417338 | 71790368 | AAAAGAAA others(17): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01258.hp1 HG01346.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0095 others(1): Show |
4 | 70 | 0.0571 | -24 | c.659 others(41): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 6/6 | chr7 | TogoVar |