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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C19orf12_chr19_29693937_29720261 | 29719549 | AATATATT others(39): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp1 HG02027.hp1 NA18946.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0038 | a0001c0002t0005g0024a0001c0002t0005g0042a0001c0002t0005g0168others(3): Show | 8 | 418 | 0.0191 | -46 | c.-44 others(57): Show |
C19orf12 | ENSG00000131943.20 | transcript | ENST00000323670.14 | protein_coding | 4289 | chr19 | TogoVar | ||||||
C1GALT1_chr7_7177544_7253616 | 7245984 | ATAGGGAG others(39): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0001 | 1 | 392 | 0.0026 | -46 | c.*22 others(57): Show |
C1GALT1 | ENSG00000106392.11 | transcript | ENST00000436587.7 | protein_coding | 4/4 | 2258 | chr7 | TogoVar | |||||
C1orf174_chr1_3884133_3905272 | 3891905 | GGCCCGGG others(39): Show |
G | intron_variant | MODIFIER | HG00423.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112a0001c0001t0001g0116 | 2 | 440 | 0.0046 | -46 | c.130 others(61): Show |
C1orf174 | ENSG00000198912.12 | transcript | ENST00000361605.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
C1orf174_chr1_3884133_3905272 | 3891951 | AGCCCGGG others(39): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01169.hp2 HG01928.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0039a0001c0001t0002g0081a0001c0001t0004g0028others(5): Show | 21 | 440 | 0.0477 | -46 | c.129 others(61): Show |
C1orf174 | ENSG00000198912.12 | transcript | ENST00000361605.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
C1orf174_chr1_3884133_3905272 | 3892441 | CGGGTGCT others(39): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG02074.hp1 others(13): Show |
a0001a0006 | a0001c0004a0006c0011 | a0001c0004t0004a0006c0011t0004 | a0001c0004t0004g0010a0001c0004t0004g0011a0001c0004t0004g0049others(1): Show | 16 | 440 | 0.0364 | -46 | c.129 others(61): Show |
C1orf174 | ENSG00000198912.12 | transcript | ENST00000361605.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
C1orf174_chr1_3884133_3905272 | 3892595 | GGCCCGGG others(39): Show |
G | intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 440 | 0.0023 | -46 | c.129 others(61): Show |
C1orf174 | ENSG00000198912.12 | transcript | ENST00000361605.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74077771 | GTATATAT others(39): Show |
G | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 318 | 0.0031 | -46 | c.460 others(63): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 23/32 | chr11 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6706831 | CTCCTCCC others(39): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02717.hp2 HG02886.hp2 others(8): Show |
a0001a0007 | a0001c0006a0001c0010a0001c0012others(1): Show | a0001c0006t0001a0001c0010t0001a0001c0012t0001others(1): Show | a0001c0006t0001g0152a0001c0010t0001g0066a0001c0010t0001g0067others(8): Show | 11 | 370 | 0.0297 | -46 | c.224 others(63): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 17/40 | chr19 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1059718 | CGGGGCGG others(39): Show |
C | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0252 | 1 | 326 | 0.0031 | -46 | c.130 others(65): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1127665 | CATCCCAC others(39): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010 | a0001c0001t0007g0118a0001c0001t0010g0119 | 2 | 326 | 0.0061 | -46 | c.-1- others(59): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1127727 | GGGCTGGA others(39): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01346.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0054others(1): Show | 4 | 326 | 0.0123 | -46 | c.-1- others(59): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1127757 | CATCTCAC others(39): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02970.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0015a0002c0002t0003a0002c0002t0018 | a0001c0001t0015g0319a0001c0001t0015g0320a0002c0002t0003g0315others(6): Show | 9 | 326 | 0.0276 | -46 | c.-1- others(59): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1127839 | AATCTCGG others(39): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0071 | 1 | 326 | 0.0031 | -46 | c.-1- others(59): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1128255 | CATCTCGG others(39): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00558.hp1 others(34): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0008others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0015others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0021others(34): Show | 37 | 326 | 0.1135 | -46 | c.-1- others(59): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1128301 | AATCTCGG others(39): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01255.hp1 HG02071.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0067a0001c0001t0002g0208a0001c0001t0002g0209others(11): Show | 14 | 326 | 0.0429 | -46 | c.-1- others(59): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1128439 | CATCTCGG others(39): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0012 | a0001c0001t0011g0311a0001c0001t0012g0310a0001c0001t0012g0313 | 3 | 326 | 0.0092 | -46 | c.-1- others(61): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1128453 | CCACCGTC others(39): Show |
C | intron_variant | MODIFIER | NA18971.hp1 NA18986.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0027 | a0001c0001t0004g0184a0001c0001t0004g0185a0001c0001t0027g0193 | 3 | 326 | 0.0092 | -46 | c.-1- others(61): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1129001 | GATCTCGG others(39): Show |
G | intron_variant | MODIFIER | HG01515.hp1 NA19085.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0053a0001c0001t0001g0079 | 3 | 326 | 0.0092 | -46 | c.-1- others(61): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1129020 | GTCACCCG others(39): Show |
G | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0232 | 1 | 326 | 0.0031 | -46 | c.-1- others(61): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1129099 | GGCTCATC others(39): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp2 HG02895.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(1): Show | a0001c0001t0002g0318a0001c0001t0005g0308a0001c0001t0005g0314others(4): Show | 7 | 326 | 0.0215 | -46 | c.-1- others(61): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1129107 | CCACCGTC others(39): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0230 | 1 | 326 | 0.0031 | -46 | c.-1- others(61): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1129231 | CATCTCGG others(39): Show |
C | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 | 1 | 326 | 0.0031 | -46 | c.-1- others(61): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1129245 | TCACCGTC others(39): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02970.hp1 HG02976.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0018 | a0002c0002t0003g0315a0002c0002t0003g0316a0002c0002t0003g0317others(4): Show | 7 | 326 | 0.0215 | -46 | c.-1- others(61): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1129277 | GATCTCGG others(39): Show |
G | intron_variant | MODIFIER | NA18969.hp1 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0031 | 2 | 326 | 0.0061 | -46 | c.-1- others(61): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56885433 | TATTTAAG others(39): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00609.hp2 others(64): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0018a0001c0023others(3): Show | a0001c0001t0001a0001c0018t0001a0001c0023t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(45): Show | 67 | 366 | 0.1831 | -46 | c.856 others(61): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C9_chr5_39279140_39369495 | 39334501 | ACCCCGTC others(39): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01192.hp1 HG01243.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0046a0001c0001t0001g0200a0001c0001t0002g0035others(23): Show | 28 | 394 | 0.0711 | -46 | c.477 others(63): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49318496 | GGGAAAGG others(39): Show |
G | intron_variant | MODIFIER | HG00733.hp1 NA18970.hp1 NA18971.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0017 | a0001c0001t0003g0030a0001c0002t0001g0068a0001c0002t0001g0082others(3): Show | 6 | 324 | 0.0185 | -46 | c.835 others(63): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49318502 | GGGAAAGG others(39): Show |
G | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 324 | 0.0031 | -46 | c.835 others(63): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | ||||||
CABCOCO1_chr10_61657929_61771766 | 61680652 | TTATGTTA others(39): Show |
T | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 374 | 0.0027 | -46 | c.165 others(61): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNA1A_chr19_13201442_13511479 | 13255928 | TTCCTTCC others(39): Show |
T | intron_variant | MODIFIER | HG00438.hp1 NA18964.hp1 |
a0003 | a0003c0015a0003c0054 | a0003c0015t0002a0003c0054t0043 | a0003c0015t0002g0167a0003c0054t0043g0060 | 2 | 218 | 0.0092 | -46 | c.459 others(63): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 28/46 | chr19 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82060155 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03098.hp2 HG03453.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0021a0001c0002t0001 | a0001c0001t0006g0138a0001c0001t0021g0113a0001c0002t0001g0018 | 3 | 144 | 0.0208 | -46 | c.879 others(61): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54736054 | TATGTATG others(39): Show |
T | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 | 1 | 118 | 0.0085 | -46 | c.116 others(67): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54763769 | GTATATAT others(39): Show |
G | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0018 | 1 | 118 | 0.0085 | -46 | c.124 others(63): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18236144 | GCAGTGTG others(39): Show |
G | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 200 | 0.0050 | -46 | c.213 others(65): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNG7_chr19_53904278_53948950 | 53905721 | ACTCTCCC others(39): Show |
A | upstream_gene_variant | MODIFIER | HG03669.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167a0001c0001t0002g0353 | 2 | 364 | 0.0055 | -46 | c.-38 others(57): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3556 | chr19 | TogoVar | ||||||
CACTIN_chr19_3605645_3631790 | 3605789 | CACACAAG others(39): Show |
C | downstream_gene_variant | MODIFIER | NA18978.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0017 | 1 | 408 | 0.0025 | -46 | c.*60 others(57): Show |
CACTIN | ENSG00000105298.14 | transcript | ENST00000429344.7 | protein_coding | 4855 | chr19 | TogoVar | ||||||
CACUL1_chr10_118671411_118759970 | 118758580 | CTTAGACC others(39): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(270): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(76): Show | a0001c0001t0001g0003a0001c0001t0001g0021a0001c0001t0001g0023others(245): Show | 273 | 388 | 0.7036 | -46 | c.-38 others(57): Show |
CACUL1 | ENSG00000151893.15 | transcript | ENST00000369151.8 | protein_coding | 3611 | chr10 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115400662 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0108 | 1 | 164 | 0.0061 | -46 | c.124 others(67): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CALCRL_chr2_187336964_187453252 | 187341096 | CATATATA others(39): Show |
C | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01261.hp2 HG02258.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0001c0001t0029a0002c0003t0009others(1): Show | a0001c0001t0006g0009a0001c0001t0006g0010a0001c0001t0006g0197others(12): Show | 17 | 344 | 0.0494 | -46 | c.*50 others(57): Show |
CALCRL | ENSG00000064989.13 | transcript | ENST00000392370.8 | protein_coding | 867 | chr2 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 71798089 | CAGAGAGA others(39): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01884.hp2 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0043 | a0001c0001t0001g0119a0001c0001t0001g0124a0001c0001t0018g0063others(2): Show | 5 | 142 | 0.0352 | -46 | c.659 others(65): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 6/6 | chr7 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12401108 | TTATATAT others(39): Show |
T | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0083 | 1 | 214 | 0.0047 | -46 | c.92+ others(63): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12401150 | TTATATAT others(39): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02155.hp2 HG02886.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0009a0001c0001t0020others(5): Show | a0001c0001t0005g0062a0001c0001t0009g0100a0001c0001t0020g0142others(5): Show | 8 | 214 | 0.0374 | -46 | c.92+ others(63): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12691358 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0140 | 1 | 214 | 0.0047 | -46 | c.299 others(65): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12691377 | AAATATAT others(39): Show |
A | intron_variant | MODIFIER | HG02897.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0062a0001c0001t0112 | a0001c0001t0062g0144a0001c0001t0112g0038 | 2 | 214 | 0.0094 | -46 | c.299 others(65): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | chr10 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44409080 | GATATATA others(39): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00733.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0134a0001c0001t0001g0135a0001c0001t0001g0137others(7): Show | 10 | 198 | 0.0505 | -46 | c.376 others(65): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMSAP2_chr1_200733893_200865704 | 200817165 | CGTGTGTG others(39): Show |
C | intron_variant | MODIFIER | HG03834.hp1 NA20905.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0095a0001c0002t0002g0096 | 2 | 366 | 0.0055 | -46 | c.645 others(63): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7310664 | TTTCTTTC others(39): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG03130.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0023 | a0001c0001t0007g0021a0001c0003t0023g0045 | 2 | 58 | 0.0345 | -46 | c.438 others(65): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAP1_chr1_40035729_40077648 | 40047101 | TTATAATC others(39): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00597.hp2 others(113): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0003g0006a0001c0001t0003g0019a0001c0001t0003g0020others(83): Show | 116 | 378 | 0.3069 | -46 | c.-11 others(63): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPZA2_chr7_116857587_116927049 | 116890523 | AAAATATA others(39): Show |
A | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 354 | 0.0028 | -46 | c.103 others(63): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZA2_chr7_116857587_116927049 | 116890525 | AATATATA others(39): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0300 | 1 | 354 | 0.0028 | -46 | c.103 others(63): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |