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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHCHD6_chr3_126699240_126965420 | 126861533 | CCACCACC others(5): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01346.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0163a0001c0001t0001g0164a0001c0001t0001g0181others(3): Show | 6 | 216 | 0.0278 | -12 | c.495 others(29): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126862576 | TCCTCCAC others(5): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0112a0001c0001t0001g0113others(1): Show | 4 | 216 | 0.0185 | -12 | c.495 others(29): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126865140 | ACCACCTC others(5): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116a0001c0001t0001g0117 | 2 | 216 | 0.0093 | -12 | c.495 others(31): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126913207 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01255.hp1 HG02004.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0141a0002c0002t0001g0004a0002c0002t0001g0006others(20): Show | 23 | 216 | 0.1065 | -12 | c.496 others(29): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCT1_chr17_60417489_60436426 | 60419817 | AATTATTA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01109.hp1 others(55): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0017others(14): Show | 58 | 322 | 0.1801 | -12 | c.-27 others(23): Show |
CHCT1 | ENSG00000141371.13 | transcript | ENST00000269127.5 | protein_coding | 2671 | chr17 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98864517 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG02895.hp1 NA18949.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220a0001c0001t0001g0265a0001c0001t0001g0266others(1): Show | 4 | 334 | 0.0120 | -12 | c.424 others(29): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 31/35 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98871369 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG00741.hp2 others(33): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0010a0002c0002t0017 | a0002c0002t0002g0003a0002c0002t0002g0100a0002c0002t0002g0101others(31): Show | 36 | 334 | 0.1078 | -12 | c.386 others(29): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 28/35 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98883826 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02886.hp1 HG02965.hp1 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0020a0001c0003t0028 | a0001c0003t0002g0002a0001c0003t0002g0056a0001c0003t0002g0057others(6): Show | 10 | 334 | 0.0299 | -12 | c.256 others(29): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98883851 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02818.hp1 NA18951.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0169a0002c0002t0005g0019a0002c0002t0005g0020 | 3 | 334 | 0.0090 | -12 | c.256 others(29): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98883853 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02922.hp1 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0014a0002c0002t0005g0016 | 2 | 334 | 0.0060 | -12 | c.256 others(29): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98883855 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | NA18947.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0011 | 1 | 334 | 0.0030 | -12 | c.256 others(29): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 92909939 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(179): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(175): Show | 182 | 306 | 0.5948 | -12 | c.62+ others(27): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD2_chr15_92895324_93032996 | 92940958 | TATATAAA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(183): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(178): Show | 186 | 306 | 0.6078 | -12 | c.693 others(27): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD2_chr15_92895324_93032996 | 92965448 | CAGGAGGC others(5): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01123.hp2 HG01192.hp1 others(12): Show |
a0001 | a0001c0001a0001c0005a0001c0017others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0035a0001c0001t0001g0036others(11): Show | 15 | 306 | 0.0490 | -12 | c.200 others(31): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 16/38 | chr15 | TogoVar | ||||||
CHD3_chr17_7883789_7917755 | 7885307 | CCCGCCGC others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp2 HG02280.hp1 HG02451.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0007t0001others(2): Show | a0001c0001t0001g0189a0001c0001t0006g0001a0001c0007t0001g0007others(5): Show | 13 | 366 | 0.0355 | -12 | c.-36 others(23): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 3481 | chr17 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6607668 | CCCAACAC others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01884.hp2 HG02970.hp1 others(6): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0002a0002c0001t0001 | a0001c0002t0001g0032a0001c0002t0001g0224a0001c0002t0001g0225others(6): Show | 9 | 374 | 0.0241 | -12 | c.-45 others(21): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 290 | chr12 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6607671 | AACACACA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01515.hp2 HG01891.hp2 |
a0002a0003 | a0002c0001a0003c0006 | a0002c0001t0001a0003c0006t0002 | a0002c0001t0001g0189a0003c0006t0002g0043 | 2 | 374 | 0.0054 | -12 | c.-46 others(21): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 293 | chr12 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6150475 | CGGACGGA others(5): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0009 | a0001c0009t0041 | a0001c0009t0041g0014 | 1 | 320 | 0.0031 | -12 | c.994 others(27): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 7/41 | chr1 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41467561 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0177 | 1 | 324 | 0.0031 | -12 | c.266 others(31): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 17/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41498807 | ATGTATGT others(5): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG02559.hp2 |
a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0265a0004c0010t0001g0266 | 2 | 324 | 0.0062 | -12 | c.915 others(27): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 6/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41498811 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG01978.hp2 HG02523.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0247a0001c0002t0001g0267 | 2 | 324 | 0.0062 | -12 | c.915 others(27): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 6/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41610760 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 324 | 0.0031 | -12 | c.-24 others(29): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60678779 | GGCGGCGG others(5): Show |
G | 5_prime_UTR_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0008 | 1 | 236 | 0.0042 | -12 | c.-46 others(21): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62631 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
CHD7_chr8_60673740_60873028 | 60816113 | GTCTCTCT others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG01515.hp2 others(24): Show |
a0001a0003a0018 | a0001c0001a0001c0002a0003c0035others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(6): Show | a0001c0001t0001g0028a0001c0001t0003g0019a0001c0001t0003g0020others(24): Show | 27 | 236 | 0.1144 | -12 | c.249 others(29): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD7_chr8_60673740_60873028 | 60823394 | TATAGATA others(5): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0231 | 1 | 236 | 0.0042 | -12 | c.320 others(29): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD8_chr14_21380199_21461123 | 21415506 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0255 | 1 | 260 | 0.0039 | -12 | c.196 others(27): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 7/37 | chr14 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21415536 | AATAAATA others(5): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG03041.hp2 HG03195.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0001a0001c0006t0001g0126 | 3 | 260 | 0.0115 | -12 | c.196 others(27): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 7/37 | chr14 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21434285 | GAGCCGTC others(5): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0219 | 1 | 260 | 0.0039 | -12 | c.-21 others(31): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21457628 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02148.hp2 NA18990.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0177a0001c0003t0001g0069 | 2 | 260 | 0.0077 | -12 | c.-18 others(23): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1506 | chr14 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21459421 | CTAAAATA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 260 | 0.0039 | -12 | c.-36 others(23): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 3299 | chr14 | TogoVar | ||||||
CHD9NB_chr16_53036484_53057897 | 53051768 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG03471.hp2 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0055a0001c0001t0004g0185 | 2 | 406 | 0.0049 | -12 | c.-18 others(29): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53051768 | AATATATA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0106 | 1 | 238 | 0.0042 | -12 | c.-34 others(23): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 3222 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53063358 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0101 | 1 | 238 | 0.0042 | -12 | c.-16 others(31): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53082200 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG03098.hp1 HG03130.hp1 HG03579.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0003a0001c0003t0002a0001c0005t0018others(1): Show | a0001c0001t0003g0112a0001c0003t0002g0170a0001c0005t0018g0001others(1): Show | 4 | 238 | 0.0168 | -12 | c.-16 others(33): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53097354 | CCCTTCCT others(5): Show |
C | intron_variant | MODIFIER | HG03471.hp1 NA20805.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0111a0002c0002t0001g0044 | 2 | 238 | 0.0084 | -12 | c.-16 others(33): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53108511 | TATAGATA others(5): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG02080.hp2 NA18966.hp1 |
a0001 | a0001c0003a0001c0013 | a0001c0003t0002a0001c0013t0001 | a0001c0003t0002g0040a0001c0003t0002g0070a0001c0013t0001g0055 | 3 | 238 | 0.0126 | -12 | c.-16 others(33): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53143358 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(53): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0002a0002c0019others(3): Show | a0001c0005t0011a0002c0002t0001a0002c0002t0008others(5): Show | a0001c0005t0011g0228a0002c0002t0001g0009a0002c0002t0001g0010others(53): Show | 56 | 238 | 0.2353 | -12 | c.-16 others(33): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53171849 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096a0001c0001t0003g0131 | 2 | 238 | 0.0084 | -12 | c.145 others(33): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53204054 | TATATACA others(5): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG02135.hp2 HG02165.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0054a0002c0002t0001g0144a0002c0002t0001g0145others(5): Show | 8 | 238 | 0.0336 | -12 | c.145 others(31): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53217912 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG03516.hp2 HG03579.hp2 HG04115.hp2 others(1): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0003a0001c0003t0002a0001c0005t0001others(1): Show | a0001c0001t0003g0222a0001c0003t0002g0152a0001c0005t0001g0215others(1): Show | 4 | 238 | 0.0168 | -12 | c.178 others(31): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53304683 | CTTTTCTT others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02897.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0232a0001c0005t0004g0233a0001c0005t0004g0234others(3): Show | 6 | 238 | 0.0252 | -12 | c.661 others(27): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 31/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHDH_chr3_53807335_53851419 | 53810758 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01123.hp1 HG01943.hp1 HG01978.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0039a0002c0002t0042others(1): Show | a0002c0002t0003g0023a0002c0002t0039g0187a0002c0002t0042g0188others(1): Show | 5 | 392 | 0.0128 | -12 | c.*70 others(23): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 1576 | chr3 | TogoVar | ||||||
CHDH_chr3_53807335_53851419 | 53810775 | AAAAAAAA others(5): Show |
A | downstream_gene_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0002 | a0002c0002t0074 | a0002c0002t0074g0037 | 1 | 392 | 0.0026 | -12 | c.*69 others(23): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 1559 | chr3 | TogoVar | ||||||
CHDH_chr3_53807335_53851419 | 53838056 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02080.hp1 HG02155.hp1 NA18939.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0001c0001t0009a0001c0001t0139others(7): Show | a0001c0001t0007g0276a0001c0001t0009g0106a0001c0001t0139g0273others(10): Show | 16 | 392 | 0.0408 | -12 | c.-60 others(29): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
CHEK1_chr11_125620163_125662147 | 125631861 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0117a0001c0001t0004g0146 | 2 | 384 | 0.0052 | -12 | c.425 others(29): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CHFR_chr12_132827356_132892605 | 132828739 | TGCGGGAG others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01257.hp2 | a0002 | a0002c0002 | a0002c0002t0120 | a0002c0002t0120g0091 | 1 | 378 | 0.0027 | -12 | c.*12 others(25): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 3616 | chr12 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132850964 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(81): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0008a0001c0001t0010a0001c0001t0011others(44): Show | a0001c0001t0008g0013a0001c0001t0008g0240a0001c0001t0008g0256others(76): Show | 84 | 378 | 0.2222 | -12 | c.149 others(29): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 12/17 | chr12 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132886309 | TCAAAAAA others(5): Show |
T | intron_variant | MODIFIER | NA18952.hp1 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0112a0001c0001t0117 | a0001c0001t0112g0233a0001c0001t0117g0232 | 2 | 378 | 0.0053 | -12 | c.133 others(27): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 2/17 | chr12 | TogoVar | ||||||
CHGB_chr20_5906510_5930353 | 5908444 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | NA18906.hp1 | a0007 | a0007c0007 | a0007c0007t0004 | a0007c0007t0004g0154 | 1 | 440 | 0.0023 | -12 | c.-31 others(23): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 3065 | chr20 | TogoVar | ||||||
CHGB_chr20_5906510_5930353 | 5918810 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02886.hp1 HG03130.hp1 others(1): Show |
a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0023a0011c0011t0001g0058 | 4 | 440 | 0.0091 | -12 | c.190 others(29): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |