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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHD2_chr15_92895324_93032996 | 92961876 | C | CTTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01106.hp2 others(19): Show |
a0001 | a0001c0001a0001c0005a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0035a0001c0001t0001g0036others(18): Show | 22 | 306 | 0.0719 | 6 | c.200 others(25): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 16/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD3_chr17_7883789_7917755 | 7884071 | A | AACACAC | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01516.hp1 others(38): Show |
a0001a0002a0005 | a0001c0001a0001c0005a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0002others(4): Show | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0026others(28): Show | 41 | 366 | 0.1120 | 6 | c.-49 others(17): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 4717 | chr17 | TogoVar | ||||||
CHD3_chr17_7883789_7917755 | 7884457 | C | CATATAT | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG01952.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0028a0001c0001t0001g0045others(6): Show | 13 | 366 | 0.0355 | 6 | c.-45 others(17): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 4331 | chr17 | TogoVar | ||||||
CHD3_chr17_7883789_7917755 | 7884695 | C | CGAGGAG | upstream_gene_variant | MODIFIER | HG00673.hp2 HG02965.hp2 NA18970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002a0001c0001t0001g0049a0001c0001t0001g0130others(3): Show | 6 | 366 | 0.0164 | 6 | c.-43 others(17): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 4093 | chr17 | TogoVar | ||||||
CHD3_chr17_7883789_7917755 | 7885307 | C | CCCGCCG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0019others(11): Show | 17 | 366 | 0.0465 | 6 | c.-36 others(17): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 3481 | chr17 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6580229 | A | AAACAAC | intron_variant | MODIFIER | HG02622.hp2 HG02895.hp1 HG02896.hp1 others(3): Show |
a0003a0005 | a0003c0006a0005c0015 | a0003c0006t0002a0005c0015t0002 | a0003c0006t0002g0042a0003c0006t0002g0044a0003c0006t0002g0046others(3): Show | 6 | 374 | 0.0160 | 6 | c.490 others(23): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 33/39 | chr12 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6580727 | A | AAAAAAG | intron_variant | MODIFIER | HG01168.hp2 HG02055.hp2 HG02109.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004a0001c0002t0002g0008a0001c0002t0002g0050others(10): Show | 18 | 374 | 0.0481 | 6 | c.490 others(23): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 33/39 | chr12 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6140967 | A | AAATAAT | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp2 HG02015.hp2 others(8): Show |
a0001a0002 | a0001c0003a0001c0008a0001c0009others(5): Show | a0001c0003t0010a0001c0008t0006a0001c0009t0014others(7): Show | a0001c0003t0010g0212a0001c0008t0006g0264a0001c0009t0014g0059others(8): Show | 11 | 320 | 0.0344 | 6 | c.243 others(25): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 15/41 | chr1 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6140994 | T | TAATAAA | intron_variant | MODIFIER | HG01109.hp1 HG02165.hp2 HG04184.hp1 |
a0001a0002 | a0001c0043a0001c0048a0002c0006 | a0001c0043t0053a0001c0048t0005a0002c0006t0019 | a0001c0043t0053g0271a0001c0048t0005g0133a0002c0006t0019g0011 | 3 | 320 | 0.0094 | 6 | c.243 others(25): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 15/41 | chr1 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41431776 | C | CTTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01243.hp1 others(12): Show |
a0001a0010a0011others(1): Show | a0001c0001a0001c0025a0010c0021others(2): Show | a0001c0001t0001a0001c0025t0001a0010c0021t0001others(2): Show | a0001c0001t0001g0202a0001c0001t0001g0203a0001c0001t0001g0205others(12): Show | 15 | 324 | 0.0463 | 6 | c.406 others(25): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 27/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41498811 | A | ATGTATG | intron_variant | MODIFIER | HG02027.hp2 NA19066.hp1 NA21309.hp2 |
a0001a0014 | a0001c0001a0014c0018 | a0001c0001t0001a0001c0001t0003a0014c0018t0001 | a0001c0001t0001g0105a0001c0001t0003g0056a0014c0018t0001g0067 | 3 | 324 | 0.0093 | 6 | c.915 others(21): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 6/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41504077 | C | CAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02622.hp2 HG03579.hp1 others(6): Show |
a0001a0002a0011 | a0001c0001a0002c0004a0011c0020 | a0001c0001t0001a0001c0001t0002a0002c0004t0004others(1): Show | a0001c0001t0001g0203a0001c0001t0001g0204a0001c0001t0001g0205others(6): Show | 9 | 324 | 0.0278 | 6 | c.853 others(23): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 5/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41556244 | A | AAGAGGG | intron_variant | MODIFIER | HG02451.hp1 NA18978.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0046a0001c0001t0001g0294 | 3 | 324 | 0.0093 | 6 | c.-23 others(23): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41556307 | C | CGGGAGA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(171): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(18): Show | a0001c0001t0001g0055a0001c0001t0001g0202a0001c0001t0001g0203others(171): Show | 174 | 324 | 0.5370 | 6 | c.-23 others(23): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41580645 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(147): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0202a0001c0001t0001g0203a0001c0001t0001g0204others(147): Show | 150 | 324 | 0.4630 | 6 | c.-23 others(25): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41591377 | T | TACACAC | intron_variant | MODIFIER | NA18966.hp1 NA18969.hp1 NA18974.hp2 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0313a0002c0004t0004g0314a0002c0004t0004g0315others(1): Show | 4 | 324 | 0.0124 | 6 | c.-24 others(25): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60678643 | C | CGCGCGG | upstream_gene_variant | MODIFIER | NA19009.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0027 | a0001c0001t0004a0001c0027t0027 | a0001c0001t0004g0040a0001c0027t0027g0185 | 2 | 236 | 0.0085 | 6 | c.-61 others(15): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 96 | chr8 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60678764 | C | CGCGGCG | 5_prime_UTR_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG01243.hp1 others(35): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0014others(13): Show | a0001c0001t0004g0036a0001c0001t0004g0040a0001c0001t0004g0045others(35): Show | 38 | 236 | 0.1610 | 6 | c.-47 others(15): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62642 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
CHD7_chr8_60673740_60873028 | 60759482 | T | TCTCTCC | intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0002a0001c0003t0004a0001c0003t0030others(1): Show | a0001c0001t0002g0074a0001c0003t0004g0107a0001c0003t0004g0108others(5): Show | 8 | 236 | 0.0339 | 6 | c.166 others(27): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD7_chr8_60673740_60873028 | 60800567 | A | ATGGACT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(169): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0007others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(169): Show | 172 | 236 | 0.7288 | 6 | c.237 others(21): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD7_chr8_60673740_60873028 | 60810380 | A | AGTGTGT | intron_variant | MODIFIER | HG00558.hp2 HG02155.hp1 HG02735.hp1 others(18): Show |
a0001a0018 | a0001c0001a0001c0002a0018c0014 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(4): Show | a0001c0001t0001g0028a0001c0001t0003g0020a0001c0001t0003g0021others(18): Show | 21 | 236 | 0.0890 | 6 | c.249 others(25): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD7_chr8_60673740_60873028 | 60816113 | G | GTCTGTC | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02896.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0009 | a0001c0001t0002a0001c0001t0049a0001c0002t0005others(1): Show | a0001c0001t0002g0115a0001c0001t0049g0029a0001c0002t0005g0168others(1): Show | 4 | 236 | 0.0170 | 6 | c.249 others(23): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD9NB_chr16_53036484_53057897 | 53049322 | T | TTGTGTG | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp1 HG02622.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0016others(2): Show | a0001c0001t0008g0025a0001c0001t0008g0062a0001c0001t0008g0063others(5): Show | 10 | 406 | 0.0246 | 6 | c.-18 others(25): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CHD9NB_chr16_53036484_53057897 | 53051768 | A | AATATAT | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp2 HG01123.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0035a0001c0001t0001g0137others(8): Show | 17 | 406 | 0.0419 | 6 | c.-18 others(23): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53051768 | A | AATATAT | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01168.hp2 HG02040.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0003t0002others(1): Show | a0001c0001t0001g0058a0001c0001t0001g0084a0001c0001t0007g0103others(4): Show | 7 | 238 | 0.0294 | 6 | c.-34 others(17): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 3222 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53063358 | T | TCACACA | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG02015.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0092a0001c0001t0001g0165a0001c0001t0002g0175others(19): Show | 22 | 238 | 0.0924 | 6 | c.-16 others(25): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53065638 | T | TAAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG03130.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0111a0001c0001t0003g0220a0001c0001t0007g0122others(4): Show | 7 | 238 | 0.0294 | 6 | c.-16 others(27): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53106657 | T | TACACAC | intron_variant | MODIFIER | HG02109.hp1 HG03130.hp1 |
a0002a0008 | a0002c0002a0008c0011 | a0002c0002t0001a0008c0011t0003 | a0002c0002t0001g0102a0008c0011t0003g0062 | 2 | 238 | 0.0084 | 6 | c.-16 others(27): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53106657 | T | TATACAC | intron_variant | MODIFIER | HG02965.hp1 NA18992.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0005t0004 | a0001c0001t0001g0008a0001c0001t0003g0016a0001c0005t0004g0104 | 3 | 238 | 0.0126 | 6 | c.-16 others(27): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53117407 | A | AATATAT | intron_variant | MODIFIER | HG01884.hp1 HG03139.hp1 |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0097a0001c0005t0004g0169 | 2 | 238 | 0.0084 | 6 | c.-16 others(27): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53146415 | G | GTGTATA | intron_variant | MODIFIER | HG03139.hp1 HG03579.hp1 |
a0001 | a0001c0005 | a0001c0005t0004a0001c0005t0018 | a0001c0005t0004g0169a0001c0005t0018g0001 | 2 | 238 | 0.0084 | 6 | c.-16 others(25): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53146419 | G | GTATATA | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG02129.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0038a0001c0001t0001g0081others(4): Show | 7 | 238 | 0.0294 | 6 | c.-16 others(25): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53171853 | C | CACACAG | intron_variant | MODIFIER | HG03225.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124a0001c0001t0001g0225 | 2 | 238 | 0.0084 | 6 | c.145 others(27): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53204123 | C | CGTGTGT | intron_variant | MODIFIER | HG02257.hp2 NA18989.hp2 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0005 | a0001c0005t0001g0215a0001c0005t0005g0017 | 2 | 238 | 0.0084 | 6 | c.145 others(25): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53310857 | C | CAATAAT | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00621.hp2 others(52): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0092a0001c0001t0002g0175a0001c0001t0003g0016others(52): Show | 55 | 238 | 0.2311 | 6 | c.722 others(25): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 34/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHDH_chr3_53807335_53851419 | 53828159 | C | CGACACA | intron_variant | MODIFIER | HG02717.hp1 HG03486.hp1 NA19043.hp2 |
a0002 | a0002c0002 | a0002c0002t0032a0002c0002t0075 | a0002c0002t0032g0012a0002c0002t0075g0074 | 3 | 392 | 0.0077 | 6 | c.-59 others(23): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
CHDH_chr3_53807335_53851419 | 53828162 | G | GACACAC | intron_variant | MODIFIER | HG01891.hp1 HG02155.hp1 HG02257.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0128a0001c0003t0031a0001c0003t0163others(14): Show | a0001c0001t0128g0088a0001c0003t0031g0010a0001c0003t0163g0323others(14): Show | 18 | 392 | 0.0459 | 6 | c.-59 others(23): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
CHDH_chr3_53807335_53851419 | 53830402 | T | TTATATA | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG02572.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0047a0001c0003t0079a0001c0003t0080others(3): Show | a0001c0001t0047g0081a0001c0003t0079g0041a0001c0003t0080g0042others(3): Show | 6 | 392 | 0.0153 | 6 | c.-59 others(23): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
CHEK1_chr11_125620163_125662147 | 125657187 | T | TTGTGTG | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG00735.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0011a0001c0001t0001g0022a0001c0001t0001g0023others(44): Show | 53 | 384 | 0.1380 | 6 | c.*18 others(17): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 41 | chr11 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28702135 | C | CTGTGTG | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00597.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0049others(27): Show | 31 | 384 | 0.0807 | 6 | c.908 others(23): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 8/14 | chr22 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28708361 | A | ATGTGTG | intron_variant | MODIFIER | HG00099.hp2 HG04228.hp1 NA18612.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110a0001c0001t0001g0180a0001c0001t0001g0190others(1): Show | 4 | 384 | 0.0104 | 6 | c.846 others(23): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 7/14 | chr22 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28708363 | A | ATGTGTG | intron_variant | MODIFIER | HG00280.hp1 HG01099.hp2 HG02027.hp2 others(14): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(14): Show | 17 | 384 | 0.0443 | 6 | c.846 others(23): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 7/14 | chr22 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28708373 | G | GTGTGTC | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02559.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0006a0001c0002t0001g0019a0001c0002t0001g0020others(3): Show | 6 | 384 | 0.0156 | 6 | c.846 others(23): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 7/14 | chr22 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28718883 | A | AACACAC | intron_variant | MODIFIER | HG00099.hp2 HG01106.hp1 HG01168.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0105a0001c0001t0001g0107a0001c0001t0001g0109others(13): Show | 16 | 384 | 0.0417 | 6 | c.683 others(21): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 5/14 | chr22 | TogoVar | ||||||
CHGA_chr14_92918150_92940285 | 92920654 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0011a0001c0005t0001others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0073others(10): Show | 32 | 447 | 0.0716 | 6 | c.-27 others(17): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 2495 | chr14 | TogoVar | ||||||
CHGB_chr20_5906510_5930353 | 5908014 | G | GTTTTTT | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02451.hp1 others(3): Show |
a0001a0007a0012 | a0001c0001a0007c0007a0012c0012 | a0001c0001t0001a0007c0007t0001a0007c0007t0004others(1): Show | a0001c0001t0001g0086a0007c0007t0001g0153a0007c0007t0004g0147others(3): Show | 6 | 440 | 0.0136 | 6 | c.-36 others(17): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 3495 | chr20 | TogoVar | ||||||
CHGB_chr20_5906510_5930353 | 5926041 | C | CTCAGAA | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02717.hp1 HG03579.hp2 |
a0004a0007 | a0004c0004a0007c0007 | a0004c0004t0001a0007c0007t0001 | a0004c0004t0001g0048a0004c0004t0001g0137a0007c0007t0001g0049 | 3 | 440 | 0.0068 | 6 | c.*99 others(15): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 689 | chr20 | TogoVar | ||||||
CHI3L1_chr1_203173931_203191704 | 203187301 | C | CTTTTTT | upstream_gene_variant | MODIFIER | HG00673.hp2 HG02071.hp1 HG02486.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0031a0001c0001t0001g0077others(2): Show | 7 | 468 | 0.0150 | 6 | c.-67 others(15): Show |
CHI3L1 | ENSG00000133048.13 | transcript | ENST00000255409.8 | protein_coding | 598 | chr1 | TogoVar | ||||||
CHI3L2_chr1_111222713_111248440 | 111229681 | C | CAAAAAA | intron_variant | MODIFIER | HG01433.hp2 HG01516.hp1 HG02015.hp2 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0002t0004a0001c0004t0003others(1): Show | a0001c0001t0003g0110a0001c0002t0004g0012a0001c0002t0004g0085others(6): Show | 19 | 434 | 0.0438 | 6 | c.41- others(19): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHIA_chr1_111285851_111325563 | 111321324 | T | TTTCTTC | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG01496.hp2 others(8): Show |
a0006a0012 | a0006c0006a0012c0014 | a0006c0006t0001a0006c0006t0002a0012c0014t0002 | a0006c0006t0001g0172a0006c0006t0002g0018a0006c0006t0002g0079others(6): Show | 11 | 426 | 0.0258 | 6 | c.*85 others(15): Show |
CHIA | ENSG00000134216.19 | transcript | ENST00000369740.6 | protein_coding | 762 | chr1 | TogoVar |