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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C12orf54_chr12_48477498_48501524 | 48477780 | AGGACCAG others(28): Show |
A | upstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 436 | 0.0023 | -35 | c.-48 others(46): Show |
C12orf54 | ENSG00000177627.11 | transcript | ENST00000548364.7 | protein_coding | 4717 | chr12 | TogoVar | ||||||
C14orf28_chr14_44892275_44912257 | 44909420 | CTTTGCCC others(28): Show |
C | downstream_gene_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0004 | 1 | 338 | 0.0030 | -35 | c.*38 others(46): Show |
C14orf28 | ENSG00000179476.8 | transcript | ENST00000325192.8 | protein_coding | 2164 | chr14 | TogoVar | ||||||
C17orf78_chr17_37370985_37397708 | 37390215 | TTATTATA others(28): Show |
T | intron_variant | MODIFIER | NA18950.hp2 NA18953.hp2 NA18956.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0136a0001c0001t0001g0140others(5): Show | 8 | 441 | 0.0181 | -35 | c.750 others(50): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
C1orf43_chr1_154201720_154225590 | 154203171 | AAATATAT others(28): Show |
A | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0155 | 1 | 374 | 0.0027 | -35 | c.*42 others(46): Show |
C1orf43 | ENSG00000143612.21 | transcript | ENST00000368521.10 | protein_coding | 3548 | chr1 | TogoVar | ||||||
C20orf144_chr20_33657327_33668908 | 33657516 | ACAGGGAC others(28): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG01070.hp1 others(31): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001a0002c0002t0001g0015 | 34 | 386 | 0.0881 | -35 | c.-48 others(46): Show |
C20orf144 | ENSG00000149609.6 | transcript | ENST00000375222.4 | protein_coding | 4810 | chr20 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 404450 | GGGACGGG others(28): Show |
G | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01099.hp1 |
a0000a0001 | a0000c0003a0001c0001 | a0000c0003t0001a0001c0001t0001 | a0000c0003t0001g0023a0001c0001t0001g0001 | 3 | 322 | 0.0093 | -35 | c.*26 others(46): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 994 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 404665 | TCTGAGGG others(28): Show |
T | downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 322 | 0.0031 | -35 | c.*23 others(46): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 779 | chr19 | TogoVar | ||||||
C2CD6_chr2_201482421_201624178 | 201498921 | TGAGACTC others(28): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp2 HG01175.hp1 others(9): Show |
a0003a0025 | a0003c0003a0025c0025 | a0003c0003t0001a0025c0025t0001 | a0003c0003t0001g0018a0003c0003t0001g0024a0003c0003t0001g0025others(9): Show | 12 | 270 | 0.0444 | -35 | c.150 others(54): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 13/15 | chr2 | TogoVar | ||||||
C2CD6_chr2_201482421_201624178 | 201515201 | AGTTTTTT others(28): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG03098.hp2 NA21309.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047a0002c0002t0001g0126a0002c0002t0001g0243 | 3 | 270 | 0.0111 | -35 | c.150 others(56): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 13/15 | chr2 | TogoVar | ||||||
C2orf69_chr2_199906293_199933273 | 199913446 | TATATATT others(28): Show |
T | intron_variant | MODIFIER | NA18953.hp2 NA18955.hp2 NA18956.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011a0001c0002t0002g0037a0001c0002t0002g0070others(3): Show | 11 | 412 | 0.0267 | -35 | c.333 others(52): Show |
C2orf69 | ENSG00000178074.6 | transcript | ENST00000319974.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf78_chr2_73779183_73822148 | 73820677 | GTTCTGAG others(28): Show |
G | downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 212 | 0.0047 | -35 | c.*36 others(46): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 3530 | chr2 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6700600 | ATATATTA others(28): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG06807.hp1 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0066a0001c0010t0001g0344 | 2 | 370 | 0.0054 | -35 | c.244 others(54): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 19/40 | chr19 | TogoVar | ||||||
C3orf33_chr3_155757617_155811278 | 155770982 | GTGTGTGT others(28): Show |
G | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 | 1 | 406 | 0.0025 | -35 | c.323 others(52): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 3/4 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185091929 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0364 | 1 | 388 | 0.0026 | -35 | c.197 others(52): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185091931 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG00735.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0029a0001c0001t0044others(4): Show | a0001c0001t0003g0058a0001c0001t0003g0313a0001c0001t0029g0370others(7): Show | 10 | 388 | 0.0258 | -35 | c.197 others(52): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185091933 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG03017.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0044 | a0001c0001t0007g0097a0001c0001t0044g0366 | 2 | 388 | 0.0052 | -35 | c.197 others(52): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1041079 | GGTCCAGG others(28): Show |
G | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 326 | 0.0031 | -35 | c.130 others(54): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1108332 | AGGAAGCA others(28): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00621.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0255a0001c0001t0002g0256a0001c0001t0002g0257others(32): Show | 35 | 326 | 0.1074 | -35 | c.129 others(54): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C8orf58_chr8_22594599_22609142 | 22598681 | TGCTAGGG others(28): Show |
T | upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 332 | 0.0030 | -35 | c.-10 others(46): Show |
C8orf58 | ENSG00000241852.11 | transcript | ENST00000289989.10 | protein_coding | 917 | chr8 | TogoVar | ||||||
C8orf90_chr8_141509671_141523729 | 141522137 | GTTGGGCC others(28): Show |
G | downstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 | 1 | 450 | 0.0022 | -35 | c.*34 others(46): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 3409 | chr8 | TogoVar | ||||||
CA11_chr19_48632946_48651187 | 48647207 | TAGTCTCA others(28): Show |
T | upstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 392 | 0.0026 | -35 | c.-16 others(46): Show |
CA11 | ENSG00000063180.9 | transcript | ENST00000084798.9 | protein_coding | 1021 | chr19 | TogoVar | ||||||
CA4_chr17_60144973_60164546 | 60159956 | ATGGTGAA others(28): Show |
A | downstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 380 | 0.0026 | -35 | c.*53 others(44): Show |
CA4 | ENSG00000167434.10 | transcript | ENST00000300900.9 | protein_coding | 411 | chr17 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87917737 | ACACACAT others(28): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00673.hp2 others(98): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0046a0001c0001t0001g0047others(97): Show | 101 | 400 | 0.2525 | -35 | c.340 others(52): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8955032 | GGCCGGCA others(28): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(116): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0006a0001c0020others(11): Show | a0001c0002t0001a0001c0006t0001a0001c0006t0013others(18): Show | a0001c0002t0001g0273a0001c0002t0001g0277a0001c0006t0001g0396others(112): Show | 119 | 452 | 0.2633 | -35 | c.260 others(52): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CA6_chr1_8940868_8980092 | 8973749 | TTTCTTTC others(28): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG02976.hp1 HG03225.hp2 others(2): Show |
a0008 | a0008c0011a0008c0023 | a0008c0011t0001a0008c0023t0001 | a0008c0011t0001g0015a0008c0011t0001g0434a0008c0011t0001g0435others(1): Show | 5 | 452 | 0.0111 | -35 | c.845 others(50): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1A_chr19_13201442_13511479 | 13346636 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0084 | a0003c0084t0016 | a0003c0084t0016g0145 | 1 | 218 | 0.0046 | -35 | c.979 others(54): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13497514 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | NA18975.hp2 | a0019 | a0019c0079 | a0019c0079t0007 | a0019c0079t0007g0067 | 1 | 218 | 0.0046 | -35 | c.293 others(52): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138123692 | CACACAAG others(28): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0004 | a0002c0004t0026 | a0002c0004t0026g0207 | 1 | 248 | 0.0040 | -35 | c.*16 others(46): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 47/47 | 1694 | chr9 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54811465 | CTTTTTTT others(28): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 118 | 0.0085 | -35 | c.138 others(54): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNB4_chr2_151827771_152104044 | 152074609 | CCATCACC others(28): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG02280.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0025a0001c0001t0001g0165a0001c0001t0001g0194others(20): Show | 23 | 230 | 0.1000 | -35 | c.147 others(54): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNG6_chr19_53986637_54017666 | 54005751 | TTAAAATA others(28): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0011others(340): Show | 358 | 430 | 0.8326 | -35 | c.544 others(52): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG6_chr19_53986637_54017666 | 54010711 | ACTACAAG others(28): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0270 | 1 | 430 | 0.0023 | -35 | c.545 others(52): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | chr19 | TogoVar | ||||||
CADM1_chr11_115164236_115509415 | 115295515 | TATATATA others(28): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02809.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0051 | a0001c0001t0019g0012a0001c0001t0019g0028a0001c0001t0051g0027 | 3 | 164 | 0.0183 | -35 | c.125 others(54): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85321114 | ATATTTTT others(28): Show |
A | intron_variant | MODIFIER | HG02976.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0011 | a0001c0001t0008g0141a0001c0002t0011g0143 | 2 | 146 | 0.0137 | -35 | c.61+ others(54): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85321116 | ATTTTTTT others(28): Show |
A | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 146 | 0.0069 | -35 | c.61+ others(54): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85769399 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG02293.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0070a0001c0001t0005g0071 | 2 | 146 | 0.0137 | -35 | c.89- others(52): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CALN1_chr7_71774491_72417338 | 72106613 | AGGAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 142 | 0.0070 | -35 | c.245 others(50): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12381422 | GCCTCCCA others(28): Show |
G | intron_variant | MODIFIER | HG02155.hp1 NA18945.hp2 NA18951.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0012a0001c0001t0029others(1): Show | a0001c0001t0005g0137a0001c0001t0012g0132a0001c0001t0029g0059others(2): Show | 5 | 214 | 0.0234 | -35 | c.92+ others(52): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12691384 | TATATATA others(28): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0020 | a0001c0001t0019g0039a0001c0001t0020g0031 | 2 | 214 | 0.0094 | -35 | c.299 others(54): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12691397 | ATATATAA others(28): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0116 | 1 | 214 | 0.0047 | -35 | c.299 others(54): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12751051 | AATAAGAT others(28): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01256.hp2 HG02055.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0020others(7): Show | a0001c0001t0002g0126a0001c0001t0003g0141a0001c0001t0020g0142others(8): Show | 11 | 214 | 0.0514 | -35 | c.300 others(52): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12827437 | TTCTTTCT others(28): Show |
T | intron_variant | MODIFIER | HG01928.hp1 HG01975.hp1 NA18948.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0099 | a0001c0001t0001g0016a0001c0001t0001g0130a0001c0001t0001g0176others(2): Show | 5 | 214 | 0.0234 | -35 | c.104 others(54): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK2B_chr7_44212154_44330594 | 44227327 | GGGTGTGG others(28): Show |
G | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0100 | 1 | 242 | 0.0041 | -35 | c.146 others(52): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44739709 | AAGCCTGG others(28): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0101 | 1 | 198 | 0.0051 | -35 | c.624 others(52): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMSAP1_chr9_135803487_135912546 | 135836412 | CGTTCTAC others(28): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 340 | 0.0029 | -35 | c.104 others(54): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 7/16 | chr9 | TogoVar | ||||||
CAMTA2_chr17_4962997_4992675 | 4973094 | GCATTCCT others(28): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02486.hp2 others(6): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0011a0003c0004t0001g0109a0003c0004t0001g0139others(2): Show | 9 | 380 | 0.0237 | -35 | c.228 others(50): Show |
CAMTA2 | ENSG00000108509.21 | transcript | ENST00000348066.8 | protein_coding | 14/22 | chr17 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181788 | CACACACA others(28): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 460 | 0.0022 | -35 | c.193 others(52): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | chr6 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735692 | CGGGGCGG others(28): Show |
C | intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0228 | 1 | 342 | 0.0029 | -35 | c.158 others(52): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735712 | CGGGGCGG others(28): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02622.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0233a0001c0003t0002g0177 | 2 | 342 | 0.0059 | -35 | c.158 others(52): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN1_chr11_65176928_65217006 | 65197579 | TAATCCAG others(28): Show |
T | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 394 | 0.0025 | -35 | c.116 others(54): Show |
CAPN1 | ENSG00000014216.16 | transcript | ENST00000279247.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |