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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHD7_chr8_60673740_60873028 | 60686348 | TAAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(140): Show |
a0001a0004a0008others(9): Show | a0001c0001a0001c0002a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(140): Show |
143 | 236 | 0.6059 | -5 | c.-17 others(24): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60714406 | GCCCCC | G | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02055.hp2 others(25): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0012others(11): Show | a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0027 others(25): Show |
28 | 236 | 0.1186 | -5 | c.-17 others(26): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60863003 | AAAAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01109.hp2 others(35): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0003a0001c0002t0005a0001c0002t0006others(11): Show | a0001c0001t0003g0021 a0001c0001t0003g0078 a0001c0001t0003g0080 others(35): Show |
38 | 236 | 0.1610 | -5 | c.807 others(22): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21387979 | GTTAAA | G | intron_variant | MODIFIER | HG03139.hp1 HG03225.hp2 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0239 a0001c0009t0001g0240 |
2 | 260 | 0.0077 | -5 | c.718 others(24): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 37/37 | chr14 | TogoVar | |||||||
CHD8_chr14_21380199_21461123 | 21442680 | AGAGGG | A | intron_variant | MODIFIER | HG01261.hp2 HG02055.hp1 HG02258.hp1 others(13): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0003a0001c0001t0005a0001c0015t0001 | a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0142 others(13): Show |
16 | 260 | 0.0615 | -5 | c.-21 others(26): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | |||||||
CHD8_chr14_21380199_21461123 | 21454162 | AAAAAG | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(67): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0014others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0070 a0001c0001t0001g0096 a0001c0001t0001g0097 others(67): Show |
70 | 260 | 0.2692 | -5 | c.-21 others(24): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | |||||||
CHD9_chr16_53049991_53332497 | 53151193 | TCCCTC | T | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02559.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 a0001c0001t0003g0096 a0001c0001t0003g0105 others(8): Show |
11 | 238 | 0.0462 | -5 | c.-16 others(24): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53172378 | TTAAAA | T | intron_variant | MODIFIER | HG01099.hp2 HG01168.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0048 a0002c0002t0001g0049 |
2 | 238 | 0.0084 | -5 | c.145 others(26): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53194899 | TAATAA | T | intron_variant | MODIFIER | HG01884.hp1 HG03516.hp2 |
a0001a0007 | a0001c0005a0007c0009 | a0001c0005t0004a0007c0009t0004 | a0001c0005t0004g0097 a0007c0009t0004g0107 |
2 | 238 | 0.0084 | -5 | c.145 others(26): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53204023 | CAAAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp2 HG02615.hp2 others(7): Show |
a0001 | a0001c0005 | a0001c0005t0004a0001c0005t0012 | a0001c0005t0004g0078 a0001c0005t0004g0104 a0001c0005t0004g0231 others(7): Show |
10 | 238 | 0.0420 | -5 | c.145 others(24): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53204045 | AAAAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(38): Show |
a0002a0004a0012 | a0002c0002a0002c0022a0004c0006others(1): Show | a0002c0002t0001a0002c0002t0008a0002c0002t0014others(3): Show | a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0012 others(38): Show |
41 | 238 | 0.1723 | -5 | c.145 others(24): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53204047 | AAATAT | A | intron_variant | MODIFIER | HG00140.hp2 HG02027.hp2 HG02129.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0017 | a0001c0003t0002g0015 a0001c0003t0002g0028 a0001c0003t0002g0033 others(5): Show |
8 | 238 | 0.0336 | -5 | c.145 others(24): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHDH_chr3_53807335_53851419 | 53816840 | GTTTTT | G | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01081.hp2 others(37): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0094a0001c0001t0095a0002c0002t0005others(14): Show | a0001c0001t0094g0103 a0001c0001t0095g0104 a0002c0002t0005g0011 others(36): Show |
40 | 392 | 0.1020 | -5 | c.*93 others(14): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 9/9 | 932 | chr3 | TogoVar | ||||||
CHDH_chr3_53807335_53851419 | 53835323 | AAGCTC | A | intron_variant | MODIFIER | NA18939.hp2 NA18946.hp2 NA18984.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0003a0002c0002t0107others(1): Show | a0001c0001t0009g0106 a0002c0002t0003g0004 a0002c0002t0003g0279 others(4): Show |
10 | 392 | 0.0255 | -5 | c.-60 others(22): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
CHDH_chr3_53807335_53851419 | 53850800 | CAAAAT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(239): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(143): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0198 others(213): Show |
242 | 392 | 0.6174 | -5 | c.-48 others(16): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 4382 | chr3 | TogoVar | |||||||
CHEK1_chr11_125620163_125662147 | 125658685 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02486.hp2 HG02735.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0001c0001t0012a0001c0001t0013others(1): Show | a0001c0001t0005g0008 a0001c0001t0005g0045 a0001c0001t0005g0050 others(6): Show |
12 | 384 | 0.0313 | -5 | c.*33 others(16): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 1539 | chr11 | TogoVar | |||||||
CHEK2_chr22_28682743_28746820 | 28729540 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(205): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0002c0005others(5): Show | a0001c0001t0001a0001c0004t0001a0002c0005t0001others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(204): Show |
208 | 384 | 0.5417 | -5 | c.320 others(22): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 2/14 | chr22 | TogoVar | |||||||
CHEK2_chr22_28682743_28746820 | 28730316 | CAGAAG | C | intron_variant | MODIFIER | HG02723.hp2 HG03139.hp1 HG03540.hp2 |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0007c0010t0001 | a0001c0001t0001g0376 a0001c0001t0001g0377 a0007c0010t0001g0375 |
3 | 384 | 0.0078 | -5 | c.319 others(22): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 2/14 | chr22 | TogoVar | |||||||
CHFR_chr12_132827356_132892605 | 132845080 | TTAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(245): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0012others(13): Show | a0001c0001t0006a0001c0001t0012a0001c0001t0033others(88): Show | a0001c0001t0006g0126 a0001c0001t0006g0132 a0001c0001t0006g0134 others(235): Show |
248 | 378 | 0.6561 | -5 | c.173 others(22): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 15/17 | chr12 | TogoVar | |||||||
CHGA_chr14_92918150_92940285 | 92935307 | CAACTT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00642.hp2 others(46): Show |
a0003a0005a0008others(2): Show | a0003c0004a0005c0020a0008c0031others(2): Show | a0003c0004t0001a0005c0020t0001a0008c0031t0001others(2): Show | a0003c0004t0001g0005 a0003c0004t0001g0014 a0003c0004t0001g0041 others(13): Show |
49 | 447 | 0.1096 | -5 | c.*42 others(14): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 23 | chr14 | TogoVar | |||||||
CHGB_chr20_5906510_5930353 | 5910014 | TAATAC | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(121): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0003c0003others(10): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0002others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 others(78): Show |
124 | 440 | 0.2818 | -5 | c.-16 others(16): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 1495 | chr20 | TogoVar | |||||||
CHGB_chr20_5906510_5930353 | 5913608 | TTTTTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(86): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0016a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0016t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 others(29): Show |
89 | 440 | 0.2023 | -5 | c.49+ others(20): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHGB_chr20_5906510_5930353 | 5918810 | TAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(83): Show |
a0002a0004a0008others(3): Show | a0002c0002a0004c0004a0008c0008others(3): Show | a0002c0002t0002a0002c0002t0003a0004c0004t0001others(4): Show | a0002c0002t0002g0002 a0002c0002t0002g0019 a0002c0002t0002g0022 others(25): Show |
86 | 440 | 0.1955 | -5 | c.190 others(22): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHI3L2_chr1_111222713_111248440 | 111229681 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(84): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0015a0007c0008others(2): Show | a0001c0001t0001a0001c0015t0001a0007c0008t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0019 others(17): Show |
87 | 434 | 0.2005 | -5 | c.41- others(18): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHI3L2_chr1_111222713_111248440 | 111245803 | ATCCTT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00544.hp2 others(124): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0005a0004c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0003c0005t0001others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0014 others(37): Show |
127 | 434 | 0.2926 | -5 | c.*25 others(16): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 2364 | chr1 | TogoVar | |||||||
CHI3L2_chr1_111222713_111248440 | 111245813 | TTCCTC | T | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02970.hp1 HG02970.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0003a0001c0001t0005a0004c0006t0005 | a0001c0001t0003g0016 a0001c0001t0003g0096 a0001c0001t0005g0044 others(3): Show |
8 | 434 | 0.0184 | -5 | c.*26 others(16): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 2374 | chr1 | TogoVar | |||||||
CHIC1_chrX_73558197_73692111 | 73576415 | AACATT | A | intron_variant | MODIFIER | HG02451.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 a0001c0001t0002g0080 |
2 | 208 | 0.0096 | -5 | c.297 others(20): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CHIC1_chrX_73558197_73692111 | 73594142 | CTTTGT | C | intron_variant | MODIFIER | HG01109.hp1 HG01123.hp2 HG01243.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0002g0078 a0001c0001t0002g0103 a0001c0001t0002g0172 others(14): Show |
17 | 208 | 0.0817 | -5 | c.507 others(22): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CHIC2_chr4_54004789_54069605 | 54032643 | AATTAC | A | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 others(1): Show |
4 | 244 | 0.0164 | -5 | c.330 others(24): Show |
CHIC2 | ENSG00000109220.11 | transcript | ENST00000263921.8 | protein_coding | 3/5 | chr4 | TogoVar | |||||||
CHIC2_chr4_54004789_54069605 | 54039881 | TAAAAG | T | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02258.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0020 others(15): Show |
20 | 244 | 0.0820 | -5 | c.330 others(22): Show |
CHIC2 | ENSG00000109220.11 | transcript | ENST00000263921.8 | protein_coding | 3/5 | chr4 | TogoVar | |||||||
CHIC2_chr4_54004789_54069605 | 54052976 | ATTATC | A | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02258.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0020 others(15): Show |
20 | 244 | 0.0820 | -5 | c.120 others(22): Show |
CHIC2 | ENSG00000109220.11 | transcript | ENST00000263921.8 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
CHID1_chr11_862859_915810 | 902668 | AGGGTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(128): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0009a0002c0002t0001others(6): Show | a0001c0001t0001g0192 a0001c0001t0001g0269 a0001c0001t0001g0282 others(112): Show |
131 | 386 | 0.3394 | -5 | c.261 others(20): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 3/12 | chr11 | TogoVar | |||||||
CHIT1_chr1_203211079_203234673 | 203214197 | TGGACA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(365): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0024a0001c0027others(27): Show | a0001c0001t0001a0001c0001t0004a0001c0024t0001others(29): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(114): Show |
368 | 484 | 0.7603 | -5 | c.*26 others(16): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 1881 | chr1 | TogoVar | |||||||
CHKA_chr11_68047859_68126388 | 68122705 | ATTTTT | A | upstream_gene_variant | MODIFIER | HG02622.hp1 HG02809.hp1 HG02976.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0199 a0001c0001t0006g0268 a0001c0001t0006g0269 others(6): Show |
9 | 276 | 0.0326 | -5 | c.-15 others(16): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 1318 | chr11 | TogoVar | |||||||
CHKB_chr22_50573963_50587849 | 50584349 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00597.hp2 others(96): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(10): Show |
99 | 416 | 0.2380 | -5 | c.-15 others(16): Show |
CHKB | ENSG00000100288.20 | transcript | ENST00000406938.3 | protein_coding | 1501 | chr22 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 244511 | AAAATT | A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02055.hp2 others(7): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0004others(1): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0006others(6): Show | a0002c0002t0001g0125 a0002c0002t0004g0008 a0002c0002t0006g0231 others(7): Show |
10 | 290 | 0.0345 | -5 | c.-17 others(20): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 279532 | TCTGGA | T | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02809.hp2 others(6): Show |
a0002a0003a0004others(3): Show | a0002c0002a0003c0003a0004c0004others(3): Show | a0002c0002t0002a0002c0002t0004a0003c0003t0003others(6): Show | a0002c0002t0002g0095 a0002c0002t0004g0290 a0003c0003t0003g0014 others(6): Show |
9 | 290 | 0.0310 | -5 | c.-95 others(24): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 405832 | CAACAT | C | 3_prime_UTR_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02647.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0016a0002c0002t0007a0003c0003t0007others(1): Show | a0001c0001t0016g0100 a0002c0002t0007g0244 a0003c0003t0007g0239 others(3): Show |
6 | 290 | 0.0207 | -5 | c.*12 others(14): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 28/28 | 122 | chr3 | TogoVar | ||||||
CHMP3_chr2_86498430_86568443 | 86504500 | ATTTTT | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(153): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 others(139): Show |
156 | 336 | 0.4643 | -5 | c.*12 others(16): Show |
CHMP3 | ENSG00000115561.16 | transcript | ENST00000263856.9 | protein_coding | 6/6 | 1299 | chr2 | TogoVar | ||||||
CHMP4B_chr20_33806348_33859366 | 33828932 | TGAGAA | T | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01169.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0004 a0001c0001t0002g0038 a0001c0001t0002g0169 others(7): Show |
19 | 332 | 0.0572 | -5 | c.190 others(24): Show |
CHMP4B | ENSG00000101421.4 | transcript | ENST00000217402.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHMP6_chr17_80986841_81005133 | 81004180 | TGCCCA | T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01256.hp2 HG02559.hp2 others(6): Show |
a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0010 a0002c0003t0006g0026 a0002c0003t0006g0037 |
9 | 438 | 0.0206 | -5 | c.*50 others(16): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 4048 | chr17 | TogoVar | |||||||
CHMP7_chr8_23238637_23266999 | 23240630 | GCTTAA | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(180): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(135): Show |
183 | 438 | 0.4178 | -5 | c.-36 others(16): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 3006 | chr8 | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85859000 | TAAAAA | T | downstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0136 | 1 | 245 | 0.0041 | -5 | c.*56 others(16): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2179 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85897007 | CATATA | C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 NA19030.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0009a0003c0005t0011 | a0001c0001t0009g0210 a0003c0005t0011g0228 a0003c0005t0011g0229 |
3 | 245 | 0.0122 | -5 | c.141 others(24): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 11/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85897014 | TATATA | T | intron_variant | MODIFIER | HG00609.hp1 HG02027.hp1 HG02155.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0018 | a0001c0001t0010g0165 a0001c0001t0010g0166 a0001c0001t0010g0184 others(1): Show |
4 | 245 | 0.0163 | -5 | c.141 others(24): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 11/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85907140 | AAAAAG | A | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011a0001c0001t0016 | a0001c0001t0004g0211 a0001c0001t0004g0218 a0001c0001t0004g0233 others(4): Show |
7 | 245 | 0.0286 | -5 | c.124 others(24): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85919563 | ATGATT | A | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0245 | 1 | 245 | 0.0041 | -5 | c.116 others(24): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85934279 | CTTTTT | C | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG02280.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 others(11): Show |
14 | 245 | 0.0571 | -5 | c.116 others(26): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85949979 | ATATAT | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01358.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0058 a0001c0002t0001g0067 a0001c0002t0002g0071 |
3 | 245 | 0.0122 | -5 | c.116 others(24): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85950608 | GCGAGA | G | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01891.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 others(7): Show |
10 | 245 | 0.0408 | -5 | c.116 others(24): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar |