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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C1orf50_chr1_42762249_42784491 | 42775762 | T | TATATA | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01081.hp1 others(18): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0008a0001c0001t0018a0001c0001t0051others(5): Show | a0001c0001t0008g0004a0001c0001t0008g0035a0001c0001t0018g0004others(7): Show | 21 | 418 | 0.0502 | 5 | c.*36 others(14): Show |
C1orf50 | ENSG00000164008.17 | transcript | ENST00000372525.7 | protein_coding | 5/5 | 369 | chr1 | TogoVar | |||||
C1orf52_chr1_85244953_85264662 | 85256814 | A | AAAAAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(139): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0043others(41): Show | 142 | 438 | 0.3242 | 5 | c.475 others(22): Show |
C1orf52 | ENSG00000162642.14 | transcript | ENST00000471115.6 | protein_coding | 2/2 | chr1 | TogoVar | ||||||
C1orf53_chr1_197897630_197912362 | 197902929 | G | GCCCGC | intron_variant | MODIFIER | HG02970.hp2 HG06807.hp2 NA18906.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0013 | 3 | 444 | 0.0068 | 5 | c.264 others(18): Show |
C1orf53 | ENSG00000203724.11 | transcript | ENST00000367393.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf54_chr1_150267790_150285916 | 150277499 | T | TCTAAA | intron_variant | MODIFIER | NA18955.hp2 NA18975.hp2 NA18980.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 5 | 434 | 0.0115 | 5 | c.300 others(20): Show |
C1orf54 | ENSG00000118292.9 | transcript | ENST00000369099.8 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
C1orf56_chr1_151042751_151056420 | 151045266 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00673.hp1 HG02698.hp2 HG02723.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0002a0001c0001t0004g0010a0001c0001t0006g0002 | 8 | 342 | 0.0234 | 5 | c.-25 others(16): Show |
C1orf56 | ENSG00000143443.10 | transcript | ENST00000368926.6 | protein_coding | 2484 | chr1 | TogoVar | ||||||
C1orf56_chr1_151042751_151056420 | 151051393 | G | GAAAAA | intragenic_variant | MODIFIER | HG01074.hp1 HG02004.hp1 HG02683.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0017a0001c0001t0022 | a0001c0001t0007g0001a0001c0001t0007g0005a0001c0001t0017g0001others(1): Show | 8 | 342 | 0.0234 | 5 | n.151 others(24): Show |
C1orf56 | ENSG00000143443.10 | gene_variant | ENSG00000143443.10 | chr1 | TogoVar | ||||||||
C1orf87_chr1_59985394_60078770 | 60061776 | C | CAAAAA | intron_variant | MODIFIER | HG02809.hp2 HG03688.hp1 HG06807.hp2 others(5): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0046a0001c0004t0001g0031others(4): Show | 8 | 382 | 0.0209 | 5 | c.108 others(22): Show |
C1orf87 | ENSG00000162598.13 | transcript | ENST00000371201.3 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
C20orf141_chr20_2809987_2820830 | 2815839 | C | CCTTTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(99): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0002c0003t0001g0002 | 102 | 414 | 0.2464 | 5 | c.*64 others(12): Show |
C20orf141 | ENSG00000258713.3 | transcript | ENST00000603872.2 | protein_coding | 10 | chr20 | TogoVar | ||||||
C20orf173_chr20_35521979_35534652 | 35532620 | C | CACACA | upstream_gene_variant | MODIFIER | NA18959.hp1 NA19085.hp2 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 366 | 0.0082 | 5 | c.-31 others(16): Show |
C20orf173 | ENSG00000125975.14 | transcript | ENST00000444723.3 | protein_coding | 2969 | chr20 | TogoVar | ||||||
C20orf173_chr20_35521979_35534652 | 35533827 | A | ATATAT | upstream_gene_variant | MODIFIER | HG01074.hp1 HG03471.hp2 NA19064.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0003a0001c0003t0002g0009 | 4 | 366 | 0.0109 | 5 | c.-43 others(16): Show |
C20orf173 | ENSG00000125975.14 | transcript | ENST00000444723.3 | protein_coding | 4176 | chr20 | TogoVar | ||||||
C20orf203_chr20_32626625_32678941 | 32638864 | G | GCTCCC | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(51): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0328a0001c0001t0003g0011a0001c0001t0003g0282others(46): Show | 54 | 360 | 0.1500 | 5 | c.*12 others(26): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 5/5 | chr20 | TogoVar | ||||||
C20orf204_chr20_64031182_64044001 | 64038563 | C | CCCGGG | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00558.hp1 others(49): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0002g0002others(7): Show | 52 | 392 | 0.1327 | 5 | c.433 others(18): Show |
C20orf204 | ENSG00000196421.9 | transcript | ENST00000636176.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
C20orf96_chr20_265863_295750 | 273876 | C | CAAGAA | intron_variant | MODIFIER | HG00280.hp2 HG01167.hp2 HG01169.hp1 others(10): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0013a0001c0001t0001g0067a0001c0001t0001g0108others(9): Show | 13 | 410 | 0.0317 | 5 | c.103 others(24): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 10/10 | chr20 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 290563 | A | ATTTTT | intron_variant | MODIFIER | HG00738.hp2 HG02027.hp2 HG02040.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0048others(9): Show | 12 | 410 | 0.0293 | 5 | c.20+ others(16): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 1/10 | chr20 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 290584 | T | TTTTTA | splice_region_variant others(1): Show |
LOW | HG00642.hp1 HG01099.hp2 HG01243.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0240a0001c0001t0001g0241others(11): Show | 16 | 410 | 0.0390 | 5 | c.20+ others(14): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 1/10 | chr20 | TogoVar | ||||||
C21orf58_chr21_46296130_46328870 | 46303746 | T | TATATA | intron_variant | MODIFIER | HG02818.hp2 HG03688.hp1 HG04228.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0221a0001c0001t0002g0241a0001c0001t0002g0286others(1): Show | 4 | 378 | 0.0106 | 5 | c.722 others(22): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 6/7 | chr21 | TogoVar | ||||||
C21orf58_chr21_46296130_46328870 | 46324552 | T | TGCGCC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(145): Show |
a0001a0008a0009 | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010others(118): Show | 148 | 378 | 0.3915 | 5 | c.-18 others(16): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 683 | chr21 | TogoVar | ||||||
C21orf62_chr21_32785673_32818703 | 32807334 | C | CTTTTT | intron_variant | MODIFIER | HG01433.hp1 HG02071.hp2 HG02132.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0079a0001c0001t0001g0092a0001c0001t0001g0095others(12): Show | 15 | 303 | 0.0495 | 5 | c.-65 others(20): Show |
C21orf62 | ENSG00000205929.11 | transcript | ENST00000479548.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
C21orf91_chr21_17783974_17824356 | 17786300 | C | CTCTCT | downstream_gene_variant | MODIFIER | HG01175.hp1 HG02055.hp1 HG02080.hp1 others(21): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0007a0001c0001t0008a0001c0001t0015others(6): Show | a0001c0001t0007g0105a0001c0001t0008g0050a0001c0001t0008g0161others(11): Show | 24 | 414 | 0.0580 | 5 | c.*71 others(16): Show |
C21orf91 | ENSG00000154642.11 | transcript | ENST00000284881.9 | protein_coding | 2673 | chr21 | TogoVar | ||||||
C21orf91_chr21_17783974_17824356 | 17786301 | T | TCTCTC | downstream_gene_variant | MODIFIER | HG01168.hp1 HG02258.hp2 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0030 | 3 | 414 | 0.0073 | 5 | c.*71 others(16): Show |
C21orf91 | ENSG00000154642.11 | transcript | ENST00000284881.9 | protein_coding | 2672 | chr21 | TogoVar | ||||||
C22orf23_chr22_37938050_37958601 | 37951797 | C | CTTTTT | intron_variant | MODIFIER | HG01361.hp1 HG02083.hp2 HG02129.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0001 | a0001c0001t0001g0006a0001c0001t0001g0068a0001c0001t0001g0072others(7): Show | 16 | 374 | 0.0428 | 5 | c.104 others(20): Show |
C22orf23 | ENSG00000128346.11 | transcript | ENST00000403305.6 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
C22orf31_chr22_29053672_29066831 | 29055808 | T | TTTTTG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(290): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(87): Show | 293 | 472 | 0.6208 | 5 | c.*29 others(16): Show |
C22orf31 | ENSG00000100249.5 | transcript | ENST00000216071.5 | protein_coding | 2863 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32145509 | A | ATAATT | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01496.hp2 HG01891.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0004t0003others(1): Show | a0001c0001t0001g0001a0002c0002t0002g0019a0002c0002t0002g0030others(7): Show | 19 | 398 | 0.0477 | 5 | c.*40 others(16): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3496 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32145623 | A | ATATAT | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG01074.hp1 others(42): Show |
a0002a0011 | a0002c0002a0011c0014 | a0002c0002t0001a0002c0002t0005a0011c0014t0001 | a0002c0002t0001g0002a0002c0002t0001g0037a0002c0002t0001g0063others(8): Show | 45 | 398 | 0.1131 | 5 | c.*39 others(16): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3382 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32145624 | T | TATATA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00639.hp1 others(23): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(5): Show | a0001c0001t0001g0001a0002c0002t0001g0002a0002c0002t0005g0015others(9): Show | 26 | 398 | 0.0653 | 5 | c.*39 others(16): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3381 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32145651 | T | TATATA | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02451.hp2 others(10): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0002a0002c0007t0002 | a0002c0002t0002g0019a0002c0002t0002g0030a0002c0002t0002g0091others(4): Show | 13 | 398 | 0.0327 | 5 | c.*38 others(16): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3354 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32145659 | T | TTATTA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(61): Show |
a0002a0004 | a0002c0002a0002c0004a0002c0006others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0003others(2): Show | a0002c0002t0001g0002a0002c0002t0002g0004a0002c0002t0002g0011others(20): Show | 64 | 398 | 0.1608 | 5 | c.*38 others(16): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3346 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32146117 | T | TATATA | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01256.hp2 others(45): Show |
a0002a0007a0011 | a0002c0002a0002c0007a0007c0013others(1): Show | a0002c0002t0001a0002c0002t0005a0002c0007t0002others(2): Show | a0002c0002t0001g0002a0002c0002t0001g0037a0002c0002t0001g0066others(8): Show | 48 | 398 | 0.1206 | 5 | c.*34 others(16): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 2888 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32146299 | A | ATATAT | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00642.hp1 others(103): Show |
a0001a0002a0003others(2): Show | a0001c0009a0002c0002a0002c0006others(6): Show | a0001c0009t0002a0002c0002t0001a0002c0002t0002others(9): Show | a0001c0009t0002g0024a0002c0002t0001g0002a0002c0002t0001g0037others(34): Show | 106 | 398 | 0.2663 | 5 | c.*32 others(16): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 2706 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32146519 | T | TATATA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(104): Show |
a0001a0002a0003others(3): Show | a0001c0009a0002c0002a0002c0004others(6): Show | a0001c0009t0002a0002c0002t0002a0002c0002t0004others(7): Show | a0001c0009t0002g0024a0002c0002t0002g0004a0002c0002t0002g0011others(41): Show | 107 | 398 | 0.2688 | 5 | c.*30 others(16): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 2486 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32146635 | A | ATATAG | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG02647.hp1 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0013a0003c0003t0002g0035 | 6 | 398 | 0.0151 | 5 | c.*29 others(16): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 2370 | chr22 | TogoVar | ||||||
C2CD2L_chr11_119102344_119123544 | 119123128 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(125): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0002g0001a0001c0001t0002g0007a0001c0001t0002g0008others(29): Show | 128 | 398 | 0.3216 | 5 | c.*68 others(16): Show |
C2CD2L | ENSG00000172375.14 | transcript | ENST00000648610.2 | protein_coding | 4585 | chr11 | TogoVar | ||||||
C2CD2_chr21_41880112_41959018 | 41914319 | A | AAAGAT | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01243.hp2 others(5): Show |
a0001a0002 | a0001c0003a0002c0012a0002c0018 | a0001c0003t0001a0001c0003t0015a0002c0012t0009others(4): Show | a0001c0003t0001g0271a0001c0003t0015g0312a0001c0003t0015g0328others(5): Show | 8 | 396 | 0.0202 | 5 | c.844 others(20): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 6/13 | chr21 | TogoVar | ||||||
C2CD2_chr21_41880112_41959018 | 41916428 | C | CCTCTT | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00621.hp1 others(94): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(55): Show | a0001c0001t0001g0033a0001c0001t0001g0040a0001c0001t0001g0067others(93): Show | 97 | 396 | 0.2450 | 5 | c.720 others(22): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 5/13 | chr21 | TogoVar | ||||||
C2CD2_chr21_41880112_41959018 | 41944533 | A | AAAAAG | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp1 HG02258.hp1 others(3): Show |
a0001 | a0001c0003a0001c0004a0001c0005others(1): Show | a0001c0003t0001a0001c0003t0005a0001c0004t0009others(2): Show | a0001c0003t0001g0224a0001c0003t0005g0263a0001c0004t0009g0223others(2): Show | 6 | 396 | 0.0152 | 5 | c.280 others(22): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | ||||||
C2CD2_chr21_41880112_41959018 | 41944538 | A | AAAAAG | intron_variant | MODIFIER | HG02056.hp2 HG02145.hp2 HG02451.hp2 others(14): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(8): Show | a0001c0002t0002a0001c0002t0003a0001c0003t0001others(13): Show | a0001c0002t0002g0022a0001c0002t0003g0052a0001c0003t0001g0054others(14): Show | 17 | 396 | 0.0429 | 5 | c.280 others(22): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | ||||||
C2CD2_chr21_41880112_41959018 | 41948870 | C | CTTTTT | intron_variant | MODIFIER | HG01123.hp2 HG01433.hp2 HG02040.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0380a0001c0001t0002g0373a0001c0001t0002g0374others(13): Show | 16 | 396 | 0.0404 | 5 | c.279 others(22): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74019683 | A | ATTTTT | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02257.hp2 others(9): Show |
a0006a0011a0019 | a0006c0008a0006c0012a0011c0015others(1): Show | a0006c0008t0001a0006c0012t0001a0011c0015t0001others(1): Show | a0006c0008t0001g0229a0006c0008t0001g0236a0006c0008t0001g0237others(8): Show | 12 | 318 | 0.0377 | 5 | c.692 others(24): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 32/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74051125 | A | AAAAAC | intron_variant | MODIFIER | NA18949.hp1 NA18949.hp2 NA18962.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0119a0001c0001t0001g0182a0003c0002t0001g0251others(4): Show | 7 | 318 | 0.0220 | 5 | c.515 others(24): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 26/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74059410 | C | CAAAAA | intron_variant | MODIFIER | HG01074.hp2 HG02258.hp1 HG02818.hp2 others(5): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0036a0004c0004t0001g0037a0004c0004t0001g0038others(5): Show | 8 | 318 | 0.0252 | 5 | c.495 others(24): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 24/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74110098 | T | TAAATA | intron_variant | MODIFIER | HG02886.hp2 NA20300.hp2 NA21309.hp1 |
a0003a0033 | a0003c0016a0033c0022 | a0003c0016t0001a0033c0022t0001 | a0003c0016t0001g0242a0003c0016t0001g0249a0033c0022t0001g0295 | 3 | 318 | 0.0094 | 5 | c.184 others(22): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 11/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74147052 | A | AAAAAT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(57): Show |
a0003a0020a0023others(2): Show | a0003c0002a0003c0016a0003c0041others(4): Show | a0003c0002t0001a0003c0002t0003a0003c0016t0001others(5): Show | a0003c0002t0001g0241a0003c0002t0001g0243a0003c0002t0001g0244others(57): Show | 60 | 318 | 0.1887 | 5 | c.484 others(22): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74150492 | C | CAAAAA | intron_variant | MODIFIER | HG02622.hp2 HG02895.hp1 HG02897.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0152others(6): Show | 9 | 318 | 0.0283 | 5 | c.484 others(24): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74153210 | A | AAAAAC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00639.hp2 others(87): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0003a0002c0005others(14): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0005others(15): Show | a0001c0001t0001g0105a0002c0003t0001g0016a0002c0003t0001g0017others(87): Show | 90 | 318 | 0.2830 | 5 | c.483 others(22): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74153228 | A | AACAAG | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG03130.hp1 others(1): Show |
a0011a0019 | a0011c0015a0019c0045 | a0011c0015t0001a0019c0045t0001 | a0011c0015t0001g0001a0011c0015t0001g0223a0019c0045t0001g0224 | 4 | 318 | 0.0126 | 5 | c.483 others(22): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
C2CD4A_chr15_62061977_62075917 | 62075798 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00642.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0002g0006others(2): Show | 36 | 410 | 0.0878 | 5 | c.*70 others(16): Show |
C2CD4A | ENSG00000198535.5 | transcript | ENST00000355522.5 | protein_coding | 4882 | chr15 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 404092 | T | TGGGGG | downstream_gene_variant | MODIFIER | HG01981.hp1 HG01981.hp2 HG02148.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0015a0001c0001t0042a0001c0001t0137others(1): Show | a0001c0001t0015g0010a0001c0001t0042g0035a0001c0001t0137g0110others(1): Show | 5 | 322 | 0.0155 | 5 | c.*30 others(16): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1352 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 404509 | T | TGTGGG | downstream_gene_variant | MODIFIER | HG02615.hp2 HG02622.hp1 HG02630.hp1 others(4): Show |
a0001a0007 | a0001c0001a0001c0006a0007c0010 | a0001c0001t0004a0001c0001t0031a0001c0001t0089others(3): Show | a0001c0001t0004g0013a0001c0001t0031g0027a0001c0001t0089g0048others(3): Show | 7 | 322 | 0.0217 | 5 | c.*25 others(16): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 935 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 405963 | A | ACTGGC | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp1 others(45): Show |
a0000a0001a0002others(1): Show | a0000c0003a0001c0001a0001c0002others(3): Show | a0000c0003t0005a0000c0003t0008a0000c0003t0013others(22): Show | a0000c0003t0005g0043a0000c0003t0008g0115a0000c0003t0008g0167others(24): Show | 48 | 322 | 0.1491 | 5 | c.*11 others(16): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2/2 | 1132 | chr19 | TogoVar | |||||
C2CD5_chr12_22443583_22549542 | 22527330 | A | ATATAT | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003a0001c0003t0007 | a0001c0003t0001g0147a0001c0003t0001g0148a0001c0003t0001g0156others(5): Show | 9 | 200 | 0.0450 | 5 | c.349 others(20): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | TogoVar |