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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1C_chr12_2047987_2702950 | 2572547 | CCCTCCTC others(10): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG01993.hp2 HG02055.hp2 others(8): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(6): Show | a0001c0002t0029a0001c0003t0009a0001c0003t0018others(8): Show | a0001c0002t0029g0031 a0001c0003t0009g0085 a0001c0003t0018g0073 others(8): Show |
11 | 103 | 0.1068 | -17 | c.189 others(36): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 13/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53679270 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0035 | 1 | 34 | 0.0294 | -17 | c.122 others(36): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1181945 | CCCCCTCG others(10): Show |
C | intron_variant | MODIFIER | HG01175.hp1 | a0037 | a0037c0071 | a0037c0071t0001 | a0037c0071t0001g0292 | 1 | 336 | 0.0030 | -17 | c.300 others(36): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1189397 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0005 | a0005c0059 | a0005c0059t0003 | a0005c0059t0003g0023 | 1 | 89 | 0.0112 | -17 | c.300 others(34): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1198247 | ACCTGCCG others(10): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG02738.hp1 |
a0038a0057 | a0038c0119a0057c0120 | a0038c0119t0001a0057c0120t0034 | a0038c0119t0001g0306 a0057c0120t0034g0089 |
2 | 336 | 0.0060 | -17 | c.644 others(32): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 5/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39616771 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(55): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0009a0001c0014others(15): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(30): Show | a0001c0001t0003g0021 a0001c0001t0004g0065 a0001c0001t0007g0038 others(55): Show |
58 | 234 | 0.2479 | -17 | c.483 others(34): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39657677 | TGTGAGGG others(10): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG01934.hp2 others(7): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0022a0002c0013others(3): Show | a0001c0001t0008a0001c0022t0032a0002c0013t0012others(5): Show | a0001c0001t0008g0008 a0001c0001t0008g0131 a0001c0001t0008g0139 others(7): Show |
10 | 234 | 0.0427 | -17 | c.199 others(34): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201047920 | CCCCAGGC others(10): Show |
C | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 312 | 0.0032 | -17 | c.444 others(34): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 36/43 | chr1 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82099422 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02895.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0012 a0001c0001t0001g0068 a0001c0001t0012g0127 |
3 | 62 | 0.0484 | -17 | c.527 others(36): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82181041 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0135 | 1 | 9 | 0.1111 | -17 | c.295 others(36): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82253141 | GATTTGAC others(10): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02818.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0020a0001c0004t0006 | a0001c0001t0002g0097 a0001c0001t0020g0115 a0001c0004t0006g0103 |
3 | 142 | 0.0211 | -17 | c.294 others(36): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54265599 | GTATATAT others(10): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02258.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0045 a0001c0001t0001g0083 a0001c0002t0001g0020 others(12): Show |
15 | 116 | 0.1293 | -17 | c.205 others(36): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54350969 | TTTTTTTT others(10): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0041 | 1 | 116 | 0.0086 | -17 | c.321 others(36): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54451229 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0008 | 1 | 9 | 0.1111 | -17 | c.382 others(36): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54668786 | ATGCAGCC others(10): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02717.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0061 a0001c0002t0001g0060 |
2 | 116 | 0.0172 | -17 | c.116 others(38): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54811465 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01169.hp1 HG01255.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0003others(1): Show | a0001c0001t0001g0046 a0001c0002t0001g0012 a0001c0002t0001g0070 others(2): Show |
5 | 6 | 0.8333 | -17 | c.138 others(36): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1816437 | TTCCTGCC others(10): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG01952.hp2 others(16): Show |
a0001a0004a0005others(4): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(13): Show | a0001c0001t0001g0114 a0001c0001t0001g0151 a0001c0001t0001g0166 others(16): Show |
19 | 316 | 0.0601 | -17 | c.255 others(36): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 26/37 | chr12 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18394144 | ATTGGCCA others(10): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(59): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0038 others(59): Show |
62 | 200 | 0.3100 | -17 | 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 | 18438002 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01943.hp1 HG04199.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005a0001c0002t0019others(1): Show | a0001c0001t0003g0047 a0001c0002t0005g0037 a0001c0002t0005g0057 others(4): Show |
7 | 16 | 0.4375 | -17 | c.333 others(36): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18472221 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01943.hp1 HG04199.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005a0001c0002t0055 | a0001c0001t0003g0047 a0001c0002t0005g0037 a0001c0002t0005g0057 others(2): Show |
5 | 15 | 0.3333 | -17 | c.334 others(36): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18481218 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0180 | 1 | 199 | 0.0050 | -17 | c.334 others(36): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18502689 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0191 a0001c0001t0011g0192 |
2 | 8 | 0.2500 | -17 | c.593 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18532685 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00642.hp1 others(78): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(21): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 others(78): Show |
81 | 200 | 0.4050 | -17 | c.105 others(36): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18536258 | TTTTTTTT others(10): Show |
T | intron_variant | MODIFIER | NA18994.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0008 a0001c0001t0004g0153 |
2 | 200 | 0.0100 | -17 | c.130 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
CACNB2_chr10_18335709_18548557 | 18394144 | ATTGGCCA others(10): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(85): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(25): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0024 others(85): Show |
88 | 300 | 0.2933 | -17 | c.52- others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18438002 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01934.hp1 HG01943.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(3): Show | a0001c0001t0001g0223 a0001c0001t0001g0284 a0001c0001t0001g0300 others(15): Show |
18 | 30 | 0.6000 | -17 | c.171 others(36): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18472221 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01934.hp1 HG01943.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0004others(3): Show | a0001c0001t0001g0223 a0001c0001t0001g0284 a0001c0001t0003g0282 others(13): Show |
16 | 32 | 0.5000 | -17 | c.172 others(36): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481214 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0299 | 1 | 285 | 0.0035 | -17 | c.172 others(36): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18481218 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0003 | 1 | 299 | 0.0033 | -17 | c.172 others(36): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18502689 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0036 a0001c0001t0012g0038 |
2 | 10 | 0.2000 | -17 | c.431 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18532680 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0122 | 1 | 300 | 0.0033 | -17 | c.893 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18532685 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00558.hp1 others(118): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(23): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(117): Show |
121 | 300 | 0.4033 | -17 | c.893 others(34): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18536258 | TTTTTTTT others(10): Show |
T | intron_variant | MODIFIER | NA18994.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 a0001c0001t0001g0174 |
2 | 299 | 0.0067 | -17 | c.114 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 11/12 | chr10 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36559166 | TGCCATCT others(10): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG02630.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0023a0001c0001t0030others(6): Show | a0001c0001t0019g0013 a0001c0001t0019g0033 a0001c0001t0023g0115 others(8): Show |
11 | 212 | 0.0519 | -17 | c.*51 others(28): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1690 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36645536 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG02809.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(4): Show | a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0007g0002 others(5): Show |
8 | 25 | 0.3200 | -17 | c.211 others(36): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CACNG3_chr16_24251335_24367412 | 24257367 | GGGAGAGA others(10): Show |
G | intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 348 | 0.0029 | -17 | c.211 others(32): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24257369 | GAGAGAGA others(10): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG02896.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 others(3): Show |
6 | 346 | 0.0173 | -17 | c.211 others(32): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
CACNG6_chr19_53986637_54017666 | 54004334 | TTTGTGTG others(10): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01192.hp1 HG01496.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005 | a0001c0001t0003g0012 a0001c0001t0003g0046 a0001c0001t0004g0041 others(3): Show |
7 | 389 | 0.0180 | -17 | c.544 others(34): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG6_chr19_53986637_54017666 | 54004336 | TGTGTGTG others(10): Show |
T | intron_variant | MODIFIER | HG03453.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0002 | a0001c0001t0003g0231 a0001c0003t0002g0159 |
2 | 417 | 0.0048 | -17 | c.544 others(34): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
CADM1_chr11_115164236_115509415 | 115373592 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01255.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0053 a0001c0001t0001g0077 a0001c0001t0004g0092 others(7): Show |
10 | 164 | 0.0610 | -17 | c.124 others(38): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
CADM2_chr3_84953989_86079429 | 85321114 | ATATTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG02280.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0018 | a0001c0001t0002g0050 a0001c0001t0004g0064 a0001c0001t0018g0035 |
3 | 119 | 0.0252 | -17 | c.61+ others(36): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85321116 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG02015.hp1 HG02293.hp2 HG04204.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0018 a0001c0001t0003g0040 a0001c0001t0010g0146 others(4): Show |
7 | 71 | 0.0986 | -17 | c.61+ others(36): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85768987 | CATATATA others(10): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG02970.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0002t0007 | a0001c0001t0020g0097 a0001c0002t0007g0095 |
2 | 143 | 0.0140 | -17 | c.89- others(34): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85769014 | CATATATA others(10): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0016a0001c0002t0034others(2): Show | a0001c0002t0011g0012 a0001c0002t0011g0140 a0001c0002t0011g0143 others(4): Show |
7 | 134 | 0.0522 | -17 | c.89- others(34): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85769175 | CATATATA others(10): Show |
C | intron_variant | MODIFIER | HG02293.hp1 HG02970.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0020 | a0001c0001t0001g0070 a0001c0001t0005g0071 a0001c0001t0020g0097 |
3 | 145 | 0.0207 | -17 | c.89- others(34): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85897241 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01884.hp1 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0144 others(1): Show |
4 | 12 | 0.3333 | -17 | c.529 others(36): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122399660 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0114 | 1 | 30 | 0.0333 | -17 | c.274 others(36): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 20/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122717977 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0086 | 1 | 5 | 0.2000 | -17 | c.453 others(36): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | |||||||
CADPS_chr3_62393348_62880416 | 62428296 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG02970.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0021 others(3): Show |
6 | 22 | 0.2727 | -17 | c.377 others(36): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 28/29 | chr3 | TogoVar | |||||||
CAGE1_chr6_7321659_7394742 | 7333659 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | NA19062.hp2 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0246 a0001c0001t0002g0263 |
2 | 358 | 0.0056 | -17 | c.243 others(34): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 12/13 | chr6 | TogoVar |