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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CABP1_chr12_120635626_120672324 | 120656456 | G | GATGATA | intron_variant | MODIFIER | HG02083.hp2 NA18612.hp1 NA18946.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0114 a0001c0001t0001g0115 others(1): Show |
5 | 418 | 0.0120 | 6 | c.655 others(23): Show |
CABP1 | ENSG00000157782.10 | transcript | ENST00000316803.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CABP4_chr11_67450354_67466752 | 67460514 | T | TACACAC | 3_prime_UTR_variant | MODIFIER | HG02015.hp1 HG02135.hp1 HG02622.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0041a0001c0001t0042 | a0001c0001t0006g0004 a0001c0001t0006g0007 a0001c0001t0006g0009 others(3): Show |
15 | 368 | 0.0408 | 6 | c.*18 others(17): Show |
CABP4 | ENSG00000175544.14 | transcript | ENST00000325656.7 | protein_coding | 6/6 | 1857 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CABP4_chr11_67450354_67466752 | 67460516 | T | TACACAC | 3_prime_UTR_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00733.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013a0001c0001t0037others(1): Show | a0001c0001t0004g0003 a0001c0001t0004g0008 a0001c0001t0004g0020 others(4): Show |
28 | 368 | 0.0761 | 6 | c.*18 others(17): Show |
CABP4 | ENSG00000175544.14 | transcript | ENST00000325656.7 | protein_coding | 6/6 | 1885 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CABP5_chr19_48024383_48049079 | 48029798 | C | CAGAGAG | 3_prime_UTR_variant | MODIFIER | HG02015.hp2 HG02451.hp1 HG02523.hp1 others(4): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0013a0003c0004t0033 | a0002c0003t0013g0018 a0002c0003t0013g0054 a0002c0003t0013g0055 others(3): Show |
7 | 376 | 0.0186 | 6 | c.*75 others(15): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 6/6 | 758 | chr19 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48037259 | C | CTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG02027.hp2 others(3): Show |
a0002a0003a0008 | a0002c0003a0003c0004a0008c0014 | a0002c0003t0008a0003c0004t0011a0003c0004t0012others(1): Show | a0002c0003t0008g0047 a0003c0004t0011g0201 a0003c0004t0011g0202 others(3): Show |
6 | 376 | 0.0160 | 6 | c.348 others(23): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
CACFD1_chr9_133454978_133475848 | 133460471 | C | CGGCGGG | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(193): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0036 others(50): Show |
196 | 420 | 0.4667 | 6 | c.121 others(21): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64505594 | C | CCTCCCT | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01169.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0002g0017 a0001c0001t0002g0118 a0001c0001t0002g0125 others(26): Show |
29 | 166 | 0.1747 | 6 | c.198 others(25): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64531495 | T | TTGTGTG | intron_variant | MODIFIER | HG02647.hp2 HG02717.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0019 | a0001c0001t0001g0071 a0001c0001t0003g0099 a0001c0001t0019g0109 |
3 | 166 | 0.0181 | 6 | c.199 others(25): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64539387 | C | CTCCTCT | intron_variant | MODIFIER | HG03195.hp1 HG03195.hp2 NA19043.hp2 |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0001c0001t0003a0005c0010t0001 | a0001c0001t0001g0148 a0001c0001t0003g0099 a0005c0010t0001g0088 |
3 | 166 | 0.0181 | 6 | c.199 others(25): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64542988 | A | AACACAC | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 HG03195.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0001c0001t0002a0005c0010t0001 | a0001c0001t0001g0160 a0001c0001t0002g0125 a0001c0001t0002g0138 others(1): Show |
4 | 166 | 0.0241 | 6 | c.199 others(23): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64543402 | C | CATATAT | intron_variant | MODIFIER | HG00642.hp2 HG01361.hp1 HG01515.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0045 a0001c0001t0001g0094 a0001c0001t0001g0104 others(10): Show |
13 | 166 | 0.0783 | 6 | c.199 others(23): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13212827 | T | TACACAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(24): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0001c0029others(22): Show | a0001c0001t0001a0001c0005t0001a0001c0029t0036others(22): Show | a0001c0001t0001g0182 a0001c0005t0001g0187 a0001c0029t0036g0215 others(24): Show |
27 | 218 | 0.1239 | 6 | c.594 others(21): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 40/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13259312 | C | CTTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG01169.hp2 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0006a0002c0004a0002c0028others(7): Show | a0001c0006t0005a0002c0004t0007a0002c0028t0002others(7): Show | a0001c0006t0005g0110 a0002c0004t0007g0086 a0002c0028t0002g0165 others(7): Show |
10 | 218 | 0.0459 | 6 | c.438 others(23): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 27/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13271214 | G | GTTTTTT | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp2 HG01261.hp2 others(11): Show |
a0001a0002a0003others(8): Show | a0001c0017a0001c0025a0002c0010others(10): Show | a0001c0017t0001a0001c0025t0031a0002c0010t0002others(11): Show | a0001c0017t0001g0056 a0001c0025t0031g0104 a0002c0010t0002g0064 others(11): Show |
14 | 218 | 0.0642 | 6 | c.398 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 24/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13293439 | C | CTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG01106.hp2 HG01123.hp1 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(7): Show | a0001c0001t0001g0019 a0001c0001t0004g0218 a0001c0003t0001g0018 others(7): Show |
10 | 218 | 0.0459 | 6 | c.308 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 19/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13294487 | C | CTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG01981.hp2 HG02083.hp1 others(4): Show |
a0001a0004a0006others(3): Show | a0001c0001a0004c0007a0006c0102others(3): Show | a0001c0001t0001a0001c0001t0004a0004c0007t0009others(4): Show | a0001c0001t0001g0019 a0001c0001t0004g0017 a0004c0007t0009g0147 others(4): Show |
7 | 218 | 0.0321 | 6 | c.308 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 19/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13310515 | T | TAGAGAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(160): Show |
a0001a0002a0003others(40): Show | a0001c0001a0001c0003a0001c0005others(95): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(128): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 others(160): Show |
163 | 218 | 0.7477 | 6 | c.166 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 12/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13320236 | T | TTGAGAG | intron_variant | MODIFIER | HG06807.hp2 NA18522.hp2 |
a0003 | a0003c0033a0003c0084 | a0003c0033t0016a0003c0084t0016 | a0003c0033t0016g0076 a0003c0084t0016g0145 |
2 | 218 | 0.0092 | 6 | c.134 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 10/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13320237 | C | CGAGAGA | intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02451.hp1 others(8): Show |
a0001a0002a0003others(5): Show | a0001c0006a0001c0070a0001c0098others(7): Show | a0001c0006t0008a0001c0070t0013a0001c0098t0025others(8): Show | a0001c0006t0008g0148 a0001c0070t0013g0138 a0001c0098t0025g0003 others(8): Show |
11 | 218 | 0.0505 | 6 | c.134 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 10/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13334561 | T | TTGTGTG | intron_variant | MODIFIER | HG01261.hp2 HG02055.hp2 HG02083.hp1 others(2): Show |
a0002a0030a0031 | a0002c0002a0002c0103a0002c0119others(2): Show | a0002c0002t0002a0002c0103t0006a0002c0119t0002others(2): Show | a0002c0002t0002g0020 a0002c0103t0006g0150 a0002c0119t0002g0192 others(2): Show |
5 | 218 | 0.0229 | 6 | c.108 others(21): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 7/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13336594 | G | GGAGAGA | intron_variant | MODIFIER | HG00099.hp1 HG01123.hp2 HG02615.hp1 others(5): Show |
a0001a0003a0004others(2): Show | a0001c0005a0001c0035a0003c0077others(3): Show | a0001c0005t0005a0001c0005t0008a0001c0035t0004others(4): Show | a0001c0005t0005g0028 a0001c0005t0005g0135 a0001c0005t0008g0204 others(5): Show |
8 | 218 | 0.0367 | 6 | c.979 others(21): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13349007 | C | CAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp2 HG01978.hp1 others(4): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0004a0002c0119others(4): Show | a0001c0001t0004a0002c0004t0003a0002c0119t0002others(4): Show | a0001c0001t0004g0155 a0002c0004t0003g0177 a0002c0119t0002g0192 others(4): Show |
7 | 218 | 0.0321 | 6 | c.978 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13349027 | A | AAGAGAG | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG02630.hp2 others(7): Show |
a0001a0009a0016others(2): Show | a0001c0005a0001c0006a0001c0015others(6): Show | a0001c0005t0005a0001c0006t0008a0001c0015t0004others(6): Show | a0001c0005t0005g0028 a0001c0006t0008g0217 a0001c0015t0004g0047 others(7): Show |
10 | 218 | 0.0459 | 6 | c.978 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13360265 | G | GTATATA | intron_variant | MODIFIER | HG02280.hp1 NA20905.hp1 |
a0001a0016 | a0001c0100a0016c0038 | a0001c0100t0001a0016c0038t0001 | a0001c0100t0001g0112 a0016c0038t0001g0008 |
2 | 218 | 0.0092 | 6 | c.785 others(21): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 5/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13365971 | C | CTATTAT | intron_variant | MODIFIER | HG01934.hp1 HG02486.hp1 HG02572.hp1 others(5): Show |
a0001a0002a0012others(2): Show | a0001c0029a0001c0071a0002c0085others(5): Show | a0001c0029t0036a0001c0071t0037a0002c0085t0005others(5): Show | a0001c0029t0036g0215 a0001c0071t0037g0213 a0002c0085t0005g0085 others(5): Show |
8 | 218 | 0.0367 | 6 | c.632 others(21): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 4/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13402873 | C | CACATAT | intron_variant | MODIFIER | HG01192.hp2 HG02698.hp2 |
a0003a0004 | a0003c0054a0004c0007 | a0003c0054t0003a0004c0007t0001 | a0003c0054t0003g0057 a0004c0007t0001g0114 |
2 | 218 | 0.0092 | 6 | c.540 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13406465 | T | TTTTATA | intron_variant | MODIFIER | HG02109.hp2 HG03453.hp2 HG03540.hp1 |
a0001a0003 | a0001c0130a0003c0077a0003c0111 | a0001c0130t0013a0003c0077t0039a0003c0111t0012 | a0001c0130t0013g0209 a0003c0077t0039g0022 a0003c0111t0012g0211 |
3 | 218 | 0.0138 | 6 | c.540 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13406509 | A | ATGTATG | intron_variant | MODIFIER | HG01496.hp1 HG02083.hp2 NA18946.hp2 |
a0029a0032a0040 | a0029c0065a0032c0042a0040c0076 | a0029c0065t0002a0032c0042t0005a0040c0076t0002 | a0029c0065t0002g0172 a0032c0042t0005g0175 a0040c0076t0002g0108 |
3 | 218 | 0.0138 | 6 | c.540 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13429167 | T | TACACAC | intron_variant | MODIFIER | HG02895.hp1 HG03516.hp1 NA21309.hp2 |
a0012a0019a0020 | a0012c0074a0019c0092a0020c0020 | a0012c0074t0019a0019c0092t0007a0020c0020t0010 | a0012c0074t0019g0152 a0019c0092t0007g0162 a0020c0020t0010g0045 |
3 | 218 | 0.0138 | 6 | c.539 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13464543 | A | ATTTTTT | intron_variant | MODIFIER | HG02109.hp2 HG02129.hp2 HG02451.hp2 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0006a0001c0130a0002c0122others(5): Show | a0001c0006t0029a0001c0130t0013a0002c0122t0009others(5): Show | a0001c0006t0029g0136 a0001c0130t0013g0209 a0002c0122t0009g0079 others(5): Show |
8 | 218 | 0.0367 | 6 | c.294 others(23): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13466676 | G | GCTGCTA | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp2 others(28): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0019others(24): Show | a0001c0001t0001a0001c0003t0015a0001c0019t0001others(27): Show | a0001c0001t0001g0025 a0001c0003t0015g0140 a0001c0019t0001g0051 others(28): Show |
31 | 218 | 0.1422 | 6 | c.294 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13467971 | A | AGTGTGT | intron_variant | MODIFIER | HG00735.hp2 HG01257.hp2 HG01516.hp2 |
a0001a0002 | a0001c0003a0002c0028a0002c0106 | a0001c0003t0011a0002c0028t0002a0002c0106t0040 | a0001c0003t0011g0157 a0002c0028t0002g0158 a0002c0106t0040g0156 |
3 | 218 | 0.0138 | 6 | c.294 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13508647 | A | AGGAGTC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(155): Show |
a0001a0002a0003others(37): Show | a0001c0001a0001c0003a0001c0005others(101): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(129): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 others(155): Show |
158 | 218 | 0.7248 | 6 | c.-24 others(17): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 2169 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13510056 | A | AGGGGGG | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00609.hp1 others(14): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0005a0001c0019others(11): Show | a0001c0001t0001a0001c0005t0005a0001c0019t0001others(12): Show | a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0194 others(14): Show |
17 | 218 | 0.0780 | 6 | c.-38 others(17): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3578 | chr19 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 137954856 | T | TTGTGTG | intron_variant | MODIFIER | HG01109.hp2 HG02809.hp2 HG02970.hp1 |
a0001a0004a0013 | a0001c0047a0004c0029a0013c0027 | a0001c0047t0005a0004c0029t0036a0013c0027t0024 | a0001c0047t0005g0239 a0004c0029t0036g0206 a0013c0027t0024g0149 |
3 | 248 | 0.0121 | 6 | c.107 others(23): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138052249 | C | CGTGTGT | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0008a0001c0002t0011others(1): Show | a0001c0002t0005g0024 a0001c0002t0008g0026 a0001c0002t0008g0053 others(3): Show |
6 | 248 | 0.0242 | 6 | c.380 others(21): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 25/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138087713 | C | CAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG02074.hp1 NA18954.hp1 others(2): Show |
a0001a0002 | a0001c0007a0002c0008 | a0001c0007t0003a0002c0008t0003a0002c0008t0015 | a0001c0007t0003g0027 a0001c0007t0003g0037 a0002c0008t0003g0197 others(2): Show |
5 | 248 | 0.0202 | 6 | c.509 others(25): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138090701 | C | CAAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG01433.hp2 HG01515.hp2 others(19): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0007a0001c0011others(4): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0030others(8): Show | a0001c0002t0001g0035 a0001c0002t0001g0057 a0001c0002t0001g0060 others(19): Show |
22 | 248 | 0.0887 | 6 | c.509 others(25): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138128715 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00609.hp1 others(31): Show |
a0001a0002a0003others(3): Show | a0001c0011a0001c0017a0001c0021others(9): Show | a0001c0011t0002a0001c0017t0002a0001c0021t0002others(13): Show | a0001c0011t0002g0050 a0001c0017t0002g0193 a0001c0021t0002g0001 others(31): Show |
34 | 248 | 0.1371 | 6 | c.*67 others(17): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 4097 | chr9 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2067449 | C | CGTGTGT | intron_variant | MODIFIER | HG02809.hp2 HG02897.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0024others(2): Show | a0001c0001t0015a0001c0001t0028a0001c0004t0004others(3): Show | a0001c0001t0015g0034 a0001c0001t0028g0081 a0001c0004t0004g0086 others(3): Show |
6 | 104 | 0.0577 | 6 | c.49+ others(23): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2067481 | T | TGTGTGC | intron_variant | MODIFIER | HG02145.hp1 HG03492.hp1 NA18906.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0012a0001c0025others(1): Show | a0001c0001t0001a0001c0012t0007a0001c0025t0007others(1): Show | a0001c0001t0001g0088 a0001c0012t0007g0076 a0001c0025t0007g0012 others(1): Show |
4 | 104 | 0.0385 | 6 | c.49+ others(23): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2120656 | C | CTGTGTG | intron_variant | MODIFIER | HG01891.hp2 HG02273.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0003t0001others(3): Show | a0001c0001t0001g0029 a0001c0002t0003g0056 a0001c0003t0001g0009 others(3): Show |
6 | 104 | 0.0577 | 6 | c.477 others(21): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2120692 | G | GTGTGTT | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0001a0001c0021a0001c0039 | a0001c0001t0002a0001c0001t0017a0001c0021t0027others(1): Show | a0001c0001t0002g0027 a0001c0001t0017g0101 a0001c0021t0027g0087 others(1): Show |
4 | 104 | 0.0385 | 6 | c.477 others(21): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2369403 | C | CTTTTTT | intron_variant | MODIFIER | HG01358.hp2 HG01496.hp1 HG02040.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0004a0001c0001t0022a0001c0002t0001others(7): Show | a0001c0001t0004g0104 a0001c0001t0022g0058 a0001c0002t0001g0036 others(8): Show |
11 | 104 | 0.1058 | 6 | c.478 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2420102 | G | GGTGTGT | intron_variant | MODIFIER | HG01106.hp2 HG02040.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0096 a0001c0001t0003g0063 a0001c0001t0004g0005 others(6): Show |
9 | 104 | 0.0865 | 6 | c.478 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2438287 | A | ATGGTGG | intron_variant | MODIFIER | HG02647.hp1 HG02965.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(2): Show | a0001c0001t0001g0029 a0001c0001t0003g0063 a0001c0001t0017g0004 others(2): Show |
5 | 104 | 0.0481 | 6 | c.478 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2438290 | A | ATGGTGG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01071.hp1 others(83): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(64): Show | a0001c0001t0001g0088 a0001c0001t0002g0049 a0001c0001t0002g0096 others(83): Show |
86 | 104 | 0.8269 | 6 | c.478 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2438377 | A | ATGGTGG | intron_variant | MODIFIER | HG01496.hp2 HG03098.hp2 HG03239.hp2 others(5): Show |
a0001a0003a0006 | a0001c0002a0001c0006a0001c0025others(4): Show | a0001c0002t0001a0001c0006t0003a0001c0025t0007others(4): Show | a0001c0002t0001g0026 a0001c0002t0001g0094 a0001c0006t0003g0069 others(5): Show |
8 | 104 | 0.0769 | 6 | c.478 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2438397 | G | GGTAGTC | intron_variant | MODIFIER | HG01496.hp2 HG03098.hp2 HG03239.hp2 others(5): Show |
a0001a0003a0006 | a0001c0002a0001c0006a0001c0025others(4): Show | a0001c0002t0001a0001c0006t0003a0001c0025t0007others(4): Show | a0001c0002t0001g0026 a0001c0002t0001g0094 a0001c0006t0003g0069 others(5): Show |
8 | 104 | 0.0769 | 6 | c.478 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2501209 | C | CAAAAAA | intron_variant | MODIFIER | HG02040.hp1 HG02280.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0003a0001c0005a0001c0006others(4): Show | a0001c0003t0002a0001c0005t0002a0001c0005t0010others(5): Show | a0001c0003t0002g0045 a0001c0005t0002g0090 a0001c0005t0010g0089 others(5): Show |
8 | 104 | 0.0769 | 6 | c.111 others(25): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |