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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHD1L_chr1_147237684_147300762 | 147288347 | G | GAAAGA | intron_variant | MODIFIER | HG01261.hp2 HG02129.hp1 HG02630.hp1 others(6): Show |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0003 a0004c0005t0002g0059 a0004c0005t0002g0060 others(2): Show |
9 | 20 | 0.4500 | 5 | c.232 others(22): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHD1L_chr1_147237684_147300762 | 147299782 | G | GTCCCA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0007others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(18): Show | a0001c0001t0001g0208 a0001c0001t0001g0314 a0001c0001t0003g0011 others(205): Show |
262 | 416 | 0.6298 | 5 | c.*42 others(16): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 4021 | chr1 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98854349 | C | CAATAG | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(100): Show |
a0001a0002a0005 | a0001c0003a0002c0002a0005c0009 | a0001c0003t0002a0001c0003t0005a0001c0003t0006others(15): Show | a0001c0003t0002g0004 a0001c0003t0002g0011 a0001c0003t0002g0054 others(92): Show |
103 | 332 | 0.3102 | 5 | c.*20 others(16): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 36/36 | 2030 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98883926 | C | CCACCT | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(100): Show |
a0001a0002a0005 | a0001c0003a0002c0002a0005c0009 | a0001c0003t0002a0001c0003t0005a0001c0003t0006others(15): Show | a0001c0003t0002g0004 a0001c0003t0002g0011 a0001c0003t0002g0054 others(92): Show |
103 | 332 | 0.3102 | 5 | c.256 others(22): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98909014 | C | CATGAA | intron_variant | MODIFIER | HG01496.hp2 HG02055.hp2 HG02258.hp2 others(18): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005a0002c0002t0007others(3): Show | a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0198 others(17): Show |
21 | 332 | 0.0633 | 5 | c.54- others(20): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98911146 | A | ATATAT | intron_variant | MODIFIER | HG01109.hp2 HG01516.hp2 HG02886.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0245 a0001c0001t0001g0254 a0001c0001t0003g0299 others(3): Show |
6 | 124 | 0.0484 | 5 | c.54- others(20): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | |||||||
CHD2_chr15_92895324_93032996 | 92930021 | A | AAAGTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(209): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(205): Show |
212 | 304 | 0.6974 | 5 | c.443 others(20): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 5/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 92930023 | A | AGTCAG | intron_variant | MODIFIER | HG02258.hp2 HG02965.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 |
3 | 304 | 0.0099 | 5 | c.443 others(20): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 5/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 92940966 | T | TATTTA | intron_variant | MODIFIER | HG03453.hp2 NA18522.hp1 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0232 |
3 | 304 | 0.0099 | 5 | c.693 others(20): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 92946472 | C | CTTTTA | intron_variant | MODIFIER | HG02572.hp1 HG03486.hp2 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0231 a0001c0002t0005g0220 a0001c0002t0005g0229 |
3 | 304 | 0.0099 | 5 | c.137 others(22): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 12/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 92961876 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(124): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0027 others(121): Show |
127 | 174 | 0.7299 | 5 | c.200 others(24): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 16/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41504077 | C | CAAAAA | intron_variant | MODIFIER | HG01167.hp1 HG02257.hp2 HG02922.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 others(4): Show |
7 | 127 | 0.0551 | 5 | c.853 others(22): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 5/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41580645 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG02155.hp1 HG03041.hp1 others(3): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0002g0219 a0001c0002t0001g0153 a0001c0003t0001g0292 others(3): Show |
6 | 139 | 0.0432 | 5 | c.-23 others(24): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | |||||||
CHD7_chr8_60673740_60873028 | 60749370 | C | CAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01109.hp2 others(14): Show |
a0001a0004a0009others(1): Show | a0001c0001a0001c0002a0004c0034others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(8): Show | a0001c0001t0001g0028 a0001c0001t0001g0061 a0001c0001t0002g0125 others(14): Show |
17 | 19 | 0.8947 | 5 | c.166 others(24): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21442680 | A | AGAGGG | intron_variant | MODIFIER | HG02451.hp2 HG03225.hp1 NA19001.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0145 a0001c0001t0003g0230 a0001c0003t0001g0090 |
3 | 240 | 0.0125 | 5 | c.-21 others(26): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | |||||||
CHD8_chr14_21380199_21461123 | 21454162 | A | AAAAAG | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00673.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(24): Show |
27 | 80 | 0.3375 | 5 | c.-21 others(24): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | |||||||
CHD8_chr14_21380199_21461123 | 21457628 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00673.hp2 HG00735.hp1 others(28): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0010others(1): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(2): Show | a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0163 others(28): Show |
31 | 49 | 0.6327 | 5 | c.-18 others(16): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1506 | chr14 | TogoVar | |||||||
CHD9_chr16_53049991_53332497 | 53065638 | T | TAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(106): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0117 others(106): Show |
109 | 188 | 0.5798 | 5 | c.-16 others(26): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53107459 | C | CAAAAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(101): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(15): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0044 others(101): Show |
104 | 198 | 0.5253 | 5 | c.-16 others(26): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53107489 | T | TAAATA | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01074.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0013others(5): Show | a0001c0001t0001g0025 a0001c0001t0001g0091 a0001c0001t0001g0092 others(34): Show |
37 | 236 | 0.1568 | 5 | c.-16 others(26): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53108893 | A | AAAAAT | intron_variant | MODIFIER | HG01167.hp2 HG02055.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005a0001c0017 | a0001c0001t0001a0001c0001t0007a0001c0005t0012others(1): Show | a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0007g0023 others(2): Show |
5 | 236 | 0.0212 | 5 | c.-16 others(26): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53109677 | C | CTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02738.hp2 HG03669.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(2): Show | a0001c0001t0001g0091 a0001c0001t0001g0211 a0001c0001t0001g0218 others(6): Show |
9 | 165 | 0.0545 | 5 | c.-16 others(26): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53109691 | T | TTTTTC | intron_variant | MODIFIER | HG00597.hp1 HG01884.hp2 HG02040.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(7): Show | a0001c0001t0001g0009 a0001c0001t0001g0042 a0001c0001t0001g0098 others(22): Show |
25 | 170 | 0.1471 | 5 | c.-16 others(26): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53183754 | A | AAATAC | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(50): Show |
a0002a0004a0007others(1): Show | a0002c0002a0002c0019a0004c0006others(2): Show | a0002c0002t0001a0002c0002t0008a0002c0002t0014others(4): Show | a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 others(50): Show |
53 | 235 | 0.2255 | 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 | 53214517 | G | GTAAGT | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG02970.hp1 others(6): Show |
a0001a0008 | a0001c0005a0008c0018 | a0001c0005t0005a0001c0005t0011a0008c0018t0005 | a0001c0005t0005g0017 a0001c0005t0005g0018 a0001c0005t0005g0049 others(6): Show |
9 | 236 | 0.0381 | 5 | c.178 others(24): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53258022 | G | GTTGTT | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 a0001c0001t0002g0175 |
2 | 236 | 0.0085 | 5 | c.420 others(24): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 19/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53261359 | C | CTTTTT | intron_variant | MODIFIER | HG01099.hp2 HG01168.hp2 HG01433.hp1 others(4): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0001a0004c0006t0001 | a0002c0002t0001g0051 a0002c0002t0001g0066 a0002c0002t0001g0067 others(4): Show |
7 | 98 | 0.0714 | 5 | c.421 others(24): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 19/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHEK1_chr11_125620163_125662147 | 125633998 | G | GTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02698.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0043 a0001c0001t0001g0153 a0001c0001t0001g0157 others(14): Show |
24 | 76 | 0.3158 | 5 | c.613 others(20): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CHEK1_chr11_125620163_125662147 | 125650458 | G | GTTTTT | intron_variant | MODIFIER | HG02896.hp1 HG02970.hp1 HG03516.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0175 others(6): Show |
11 | 221 | 0.0498 | 5 | c.123 others(24): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28705968 | A | AAAACT | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00621.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0056 others(26): Show |
29 | 41 | 0.7073 | 5 | c.847 others(22): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 7/14 | chr22 | TogoVar | |||||||
CHGA_chr14_92918150_92940285 | 92920654 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(43): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0022others(5): Show | a0001c0001t0001a0001c0005t0001a0001c0022t0001others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0070 others(15): Show |
46 | 87 | 0.5287 | 5 | c.-27 others(16): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 2495 | chr14 | TogoVar | |||||||
CHGB_chr20_5906510_5930353 | 5908014 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(41): Show |
a0001a0002a0006others(4): Show | a0001c0001a0002c0002a0006c0006others(5): Show | a0001c0001t0001a0002c0002t0002a0006c0006t0002others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0118 others(20): Show |
44 | 190 | 0.2316 | 5 | c.-36 others(16): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 3495 | chr20 | TogoVar | |||||||
CHGB_chr20_5906510_5930353 | 5910014 | T | TAATAC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00642.hp1 others(28): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0003others(5): Show | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0110 others(24): Show |
31 | 125 | 0.2480 | 5 | c.-16 others(16): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 1495 | chr20 | TogoVar | |||||||
CHGB_chr20_5906510_5930353 | 5918148 | T | TAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG01175.hp1 HG01361.hp1 others(12): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0004others(1): Show | a0002c0002t0002a0002c0002t0003a0003c0003t0003others(2): Show | a0002c0002t0002g0032 a0002c0002t0002g0047 a0002c0002t0002g0159 others(7): Show |
15 | 73 | 0.2055 | 5 | c.190 others(22): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHGB_chr20_5906510_5930353 | 5918810 | T | TAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00609.hp2 others(11): Show |
a0006a0009a0012 | a0006c0006a0009c0009a0012c0012 | a0006c0006t0002a0009c0009t0001a0012c0012t0001 | a0006c0006t0002g0008 a0009c0009t0001g0101 a0012c0012t0001g0145 |
14 | 39 | 0.3590 | 5 | c.190 others(22): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHI3L1_chr1_203173931_203191704 | 203187301 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG01192.hp2 others(32): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(11): Show |
35 | 58 | 0.6034 | 5 | c.-67 others(14): Show |
CHI3L1 | ENSG00000133048.13 | transcript | ENST00000255409.8 | protein_coding | 598 | chr1 | TogoVar | |||||||
CHI3L2_chr1_111222713_111248440 | 111229681 | C | CAAAAA | intron_variant | MODIFIER | HG01192.hp1 HG01346.hp2 HG02109.hp2 others(19): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0003 | a0001c0001t0003g0095 a0001c0004t0003g0006 a0001c0004t0003g0035 others(6): Show |
22 | 125 | 0.1760 | 5 | c.41- others(18): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHIA_chr1_111285851_111325563 | 111297901 | C | CAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG01192.hp1 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0002a0002c0002t0002a0003c0003t0002others(3): Show | a0001c0001t0002g0128 a0001c0001t0002g0131 a0002c0002t0002g0037 others(12): Show |
17 | 231 | 0.0736 | 5 | c.-69 others(22): Show |
CHIA | ENSG00000134216.19 | transcript | ENST00000369740.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHIC1_chrX_73558197_73692111 | 73594142 | C | CTTTGT | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00738.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0030 others(34): Show |
38 | 127 | 0.2992 | 5 | c.507 others(22): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CHIT1_chr1_203211079_203234673 | 203211536 | T | TTTTTG | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG03209.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0140 |
3 | 482 | 0.0062 | 5 | c.*53 others(16): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 4542 | chr1 | TogoVar | |||||||
CHIT1_chr1_203211079_203234673 | 203214835 | A | AAAAAC | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02809.hp1 HG02895.hp1 others(5): Show |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0031 a0006c0008t0001g0037 a0006c0008t0001g0038 others(2): Show |
8 | 12 | 0.6667 | 5 | c.*20 others(16): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 1243 | chr1 | TogoVar | |||||||
CHKA_chr11_68047859_68126388 | 68113081 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00597.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 others(44): Show |
47 | 123 | 0.3821 | 5 | c.350 others(22): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 205103 | T | TCTTTC | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01192.hp2 others(22): Show |
a0001a0009a0019 | a0001c0001a0009c0010a0019c0017 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(22): Show |
25 | 288 | 0.0868 | 5 | c.-17 others(24): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 205104 | C | CTTTCT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp1 others(63): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0002a0006c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 others(63): Show |
66 | 113 | 0.5841 | 5 | c.-17 others(24): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 268551 | G | GTAAAA | intron_variant | MODIFIER | HG03688.hp1 HG04228.hp1 NA18952.hp2 |
a0001a0009a0025 | a0001c0001a0009c0010a0025c0021 | a0001c0001t0002a0009c0010t0002a0025c0021t0001 | a0001c0001t0002g0005 a0009c0010t0002g0035 a0025c0021t0001g0234 |
3 | 287 | 0.0105 | 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 | 309392 | C | CTTCCT | intron_variant | MODIFIER | HG00280.hp1 HG02074.hp2 HG02698.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0118 a0002c0002t0001g0197 a0002c0002t0002g0123 |
3 | 241 | 0.0124 | 5 | c.-94 others(24): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 314368 | T | TATATA | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG06807.hp1 |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0001a0008c0007t0001 | a0001c0001t0001g0220 a0001c0001t0001g0221 a0008c0007t0001g0289 |
3 | 286 | 0.0105 | 5 | c.-94 others(22): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89653010 | T | TTTTTC | intron_variant | MODIFIER | HG02040.hp2 NA18951.hp2 NA18986.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 others(3): Show |
6 | 389 | 0.0154 | 5 | c.27+ others(18): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
CHMP4C_chr8_81727448_81764515 | 81739418 | T | TGGGGG | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp2 others(53): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(36): Show |
56 | 120 | 0.4667 | 5 | c.190 others(22): Show |
CHMP4C | ENSG00000164695.5 | transcript | ENST00000297265.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHMP6_chr17_80986841_81005133 | 80991416 | T | TAAAAA | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG01243.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0003a0001c0001t0008a0001c0002t0005others(1): Show | a0001c0001t0003g0005 a0001c0001t0008g0021 a0001c0002t0005g0013 others(3): Show |
9 | 154 | 0.0584 | 5 | c.-50 others(14): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 424 | chr17 | TogoVar |