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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHAF1A_chr19_4397640_4448397 | 4408461 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01516.hp2 HG01517.hp2 others(8): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0016 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0163a0001c0001t0003g0324a0001c0001t0004g0325others(8): Show | 11 | 384 | 0.0287 | 9 | c.104 others(24): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHAF1A_chr19_4397640_4448397 | 4427136 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01074.hp1 others(33): Show |
a0001 | a0001c0001a0001c0026 | a0001c0001t0001a0001c0026t0001 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0143others(31): Show | 36 | 384 | 0.0938 | 9 | c.137 others(28): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHAF1B_chr21_36380392_36424015 | 36382616 | T | TGCAACCT others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00639.hp1 others(100): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0011others(98): Show | 103 | 346 | 0.2977 | 9 | c.-29 others(20): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 2775 | chr21 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132919100 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01070.hp2 HG01081.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161a0001c0001t0001g0169a0001c0001t0001g0171others(6): Show | 9 | 310 | 0.0290 | 9 | c.370 others(28): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126824560 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00639.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0132a0001c0001t0001g0134a0001c0001t0001g0151others(12): Show | 15 | 216 | 0.0694 | 9 | c.412 others(28): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126861565 | A | ACCTCATC others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02257.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0001t0001g0193others(1): Show | 4 | 216 | 0.0185 | 9 | c.495 others(26): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126862588 | A | ACCACCTC others(2): Show |
intron_variant | MODIFIER | HG02738.hp2 HG04228.hp1 NA18971.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005a0002c0002t0001g0066a0002c0002t0001g0073 | 3 | 216 | 0.0139 | 9 | c.495 others(26): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126862852 | T | TCCTCCTC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(51): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0101others(51): Show | 54 | 216 | 0.2500 | 9 | c.495 others(28): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126960551 | T | TGCAGCAG others(2): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211a0001c0001t0001g0212 | 2 | 216 | 0.0093 | 9 | c.*35 others(18): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 132 | chr3 | TogoVar | ||||||
CHD1L_chr1_147237684_147300762 | 147299000 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG02723.hp2 HG02922.hp2 others(3): Show |
a0005a0012 | a0005c0008a0012c0016 | a0005c0008t0001a0012c0016t0001 | a0005c0008t0001g0034a0005c0008t0001g0190a0005c0008t0001g0191others(3): Show | 6 | 418 | 0.0144 | 9 | c.*34 others(20): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 3239 | chr1 | TogoVar | ||||||
CHD1L_chr1_147237684_147300762 | 147300012 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00642.hp1 others(39): Show |
a0003a0007a0013 | a0003c0003a0003c0012a0007c0015others(1): Show | a0003c0003t0002a0003c0012t0002a0007c0015t0002others(1): Show | a0003c0003t0002g0004a0003c0003t0002g0006a0003c0003t0002g0032others(30): Show | 42 | 418 | 0.1005 | 9 | c.*45 others(20): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 4251 | chr1 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 93016779 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00558.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0281a0001c0001t0002g0278a0001c0001t0002g0293others(24): Show | 27 | 306 | 0.0882 | 9 | c.490 others(28): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 37/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD3_chr17_7883789_7917755 | 7885064 | G | GCCGCCGC others(2): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG00735.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0033a0001c0003t0001g0006a0001c0003t0001g0031others(5): Show | 16 | 366 | 0.0437 | 9 | c.-39 others(20): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 3724 | chr17 | TogoVar | ||||||
CHD3_chr17_7883789_7917755 | 7885307 | C | CCCGCCGC others(2): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG01167.hp2 HG01169.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0024others(20): Show | 29 | 366 | 0.0792 | 9 | c.-36 others(20): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 3481 | chr17 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6140967 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02647.hp1 NA18947.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0009a0001c0011others(3): Show | a0001c0001t0006a0001c0009t0041a0001c0011t0010others(3): Show | a0001c0001t0006g0165a0001c0009t0041g0014a0001c0011t0010g0160others(5): Show | 8 | 320 | 0.0250 | 9 | c.243 others(28): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 15/41 | chr1 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41432160 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01255.hp2 others(25): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0210a0001c0001t0001g0211a0001c0001t0001g0321others(25): Show | 28 | 324 | 0.0864 | 9 | c.406 others(28): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 27/36 | chr20 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60678764 | C | CGCGGCGG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02735.hp1 NA18952.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0032a0001c0001t0040others(2): Show | a0001c0001t0015g0035a0001c0001t0015g0130a0001c0001t0015g0137others(4): Show | 7 | 236 | 0.0297 | 9 | c.-47 others(18): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62642 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
CHD8_chr14_21380199_21461123 | 21380296 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 HG03139.hp1 HG03225.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(2): Show | a0001c0001t0001g0139a0001c0001t0002g0002a0001c0005t0002g0036others(5): Show | 8 | 260 | 0.0308 | 9 | c.*53 others(20): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 4902 | chr14 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53310857 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02451.hp1 HG02683.hp1 others(6): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(2): Show | a0001c0001t0002g0171a0001c0001t0003g0139a0001c0001t0003g0183others(6): Show | 9 | 238 | 0.0378 | 9 | c.722 others(28): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 34/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHEK1_chr11_125620163_125662147 | 125631616 | A | AACACTTT others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG02145.hp1 others(18): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0001c0001t0012a0001c0001t0013others(2): Show | a0001c0001t0005g0008a0001c0001t0005g0044a0001c0001t0005g0045others(12): Show | 21 | 384 | 0.0547 | 9 | c.425 others(26): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 5/12 | chr11 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28698228 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG01928.hp1 others(14): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0001 | a0001c0001t0001g0100a0001c0001t0001g0125a0001c0001t0001g0127others(14): Show | 17 | 384 | 0.0443 | 9 | c.100 others(28): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 9/14 | chr22 | TogoVar | ||||||
CHGA_chr14_92918150_92940285 | 92920654 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 HG01256.hp2 HG01257.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0026a0002c0002t0001g0061others(3): Show | 22 | 447 | 0.0492 | 9 | c.-27 others(20): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 2495 | chr14 | TogoVar | ||||||
CHIC1_chrX_73558197_73692111 | 73599203 | T | TTTGAGTT others(2): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 208 | 0.0048 | 9 | c.507 others(28): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHKA_chr11_68047859_68126388 | 68098890 | T | TGCCATGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(220): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0157a0001c0001t0001g0158others(219): Show | 223 | 276 | 0.8080 | 9 | c.351 others(26): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CHKA_chr11_68047859_68126388 | 68121326 | G | GCTGCGGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(107): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0018others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0157a0001c0001t0001g0158others(106): Show | 110 | 276 | 0.3986 | 9 | c.-15 others(18): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 1/12 | 150 | chr11 | TogoVar | |||||
CHKA_chr11_68047859_68126388 | 68121342 | C | CGACTGTG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02809.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0267a0001c0001t0006g0268a0001c0001t0006g0269others(6): Show | 9 | 276 | 0.0326 | 9 | c.-17 others(18): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 1/12 | 166 | chr11 | TogoVar | |||||
CHL1_chr3_191763_414417 | 234993 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(91): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0019a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0017others(91): Show | 94 | 290 | 0.3241 | 9 | c.-17 others(28): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 393232 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01169.hp2 HG01175.hp2 others(25): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(15): Show | a0001c0001t0001g0170a0001c0001t0001g0185a0001c0001t0001g0199others(25): Show | 28 | 290 | 0.0966 | 9 | c.291 others(28): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHMP2B_chr3_87222309_87260556 | 87257942 | C | CAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00735.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0022a0001c0001t0001g0026others(21): Show | 29 | 414 | 0.0701 | 9 | c.*41 others(20): Show |
CHMP2B | ENSG00000083937.10 | transcript | ENST00000263780.9 | protein_coding | 2387 | chr3 | TogoVar | ||||||
CHMP7_chr8_23238637_23266999 | 23264115 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(125): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0008others(104): Show | 128 | 438 | 0.2922 | 9 | c.*35 others(20): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 2117 | chr8 | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85856289 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02897.hp2 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0005a0005c0009 | a0001c0001t0005a0001c0001t0009a0001c0001t0012others(2): Show | a0001c0001t0005g0100a0001c0001t0009g0196a0001c0001t0009g0210others(3): Show | 6 | 245 | 0.0245 | 9 | c.*83 others(20): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4890 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85913133 | C | CGGCCAAC others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00735.hp2 others(55): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0044a0001c0001t0002g0189a0001c0001t0004g0211others(55): Show | 58 | 245 | 0.2367 | 9 | c.116 others(28): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85913332 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0196a0001c0001t0009g0199 | 2 | 245 | 0.0082 | 9 | c.116 others(28): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85913332 | A | AAAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01258.hp1 HG01928.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0005 | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0104others(6): Show | 9 | 245 | 0.0367 | 9 | c.116 others(28): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85973300 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0199 | 1 | 245 | 0.0041 | 9 | c.314 others(26): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85973328 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0245 | 1 | 245 | 0.0041 | 9 | c.314 others(26): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85977002 | A | ATACTCTT others(2): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 245 | 0.0041 | 9 | c.314 others(26): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 86026102 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | NA18966.hp1 NA18970.hp1 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0039 | 3 | 245 | 0.0122 | 9 | c.116 others(26): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29280383 | C | CAATAAAT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02040.hp1 HG02273.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0009others(1): Show | a0001c0001t0005g0006a0001c0001t0006g0145a0001c0001t0009g0017others(2): Show | 5 | 232 | 0.0216 | 9 | c.50- others(26): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29381809 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03017.hp1 NA18612.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0002a0001c0002t0004 | a0001c0001t0005g0127a0001c0002t0002g0081a0001c0002t0002g0086others(2): Show | 5 | 232 | 0.0216 | 9 | c.145 others(28): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHODL_chr21_18239833_18272370 | 18248681 | T | TAATATAT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014 | a0001c0001t0013g0048a0001c0001t0014g0304a0001c0001t0014g0305 | 4 | 402 | 0.0100 | 9 | c.79+ others(24): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHRDL2_chr11_74691429_74736426 | 74728528 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00673.hp1 others(70): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0015a0001c0001t0001g0055a0001c0001t0001g0080others(62): Show | 73 | 392 | 0.1862 | 9 | c.82+ others(24): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239404718 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG02040.hp1 NA18943.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0022 | a0001c0001t0001g0009a0001c0001t0017g0050a0001c0001t0022g0008 | 3 | 116 | 0.0259 | 9 | c.-52 others(30): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239479790 | A | AAAGTACA others(2): Show |
intron_variant | MODIFIER | HG01981.hp2 HG03195.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0015a0001c0001t0018others(1): Show | a0001c0001t0014g0095a0001c0001t0015g0033a0001c0001t0018g0022others(1): Show | 4 | 116 | 0.0345 | 9 | c.-52 others(30): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239531970 | T | TTTAAGGT others(2): Show |
intron_variant | MODIFIER | HG01981.hp2 HG03195.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0018a0001c0001t0038 | a0001c0001t0015g0033a0001c0001t0018g0022a0001c0001t0038g0032 | 3 | 116 | 0.0259 | 9 | c.-42 others(30): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239902019 | A | AGTATACC others(2): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03195.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0018a0001c0005t0048 | a0001c0001t0018g0022a0001c0005t0048g0081 | 2 | 116 | 0.0172 | 9 | c.-19 others(26): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM5_chr15_33963497_34072458 | 33968099 | T | TAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 HG02074.hp1 HG02074.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0155a0001c0001t0001g0159a0001c0001t0001g0167others(14): Show | 17 | 338 | 0.0503 | 9 | c.-14 others(20): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 397 | chr15 | TogoVar | ||||||
CHRM5_chr15_33963497_34072458 | 34027002 | A | AGAAGTAC others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(80): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0069others(78): Show | 83 | 338 | 0.2456 | 9 | c.-40 others(30): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
CHRNA5_chr15_78560520_78600269 | 78570424 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01070.hp1 HG01074.hp1 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0008 | a0001c0001t0001g0036a0001c0001t0001g0088a0001c0001t0001g0224others(15): Show | 19 | 382 | 0.0497 | 9 | c.106 others(26): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA7_chr15_32025515_32178018 | 32074637 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 NA18949.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0022others(1): Show | a0001c0001t0001g0092a0001c0001t0001g0104a0001c0003t0001g0098others(2): Show | 5 | 307 | 0.0163 | 9 | c.196 others(28): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |