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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHD1_chr5_98848985_98934007 | 98883926 | C | CCACCT | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(100): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0003c0009 | a0001c0003t0002a0001c0003t0005a0001c0003t0006others(15): Show | a0001c0003t0002g0002a0001c0003t0002g0048a0001c0003t0002g0049others(96): Show | 103 | 334 | 0.3084 | 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 | a0002c0002t0002g0131a0002c0002t0002g0132a0002c0002t0002g0199others(18): Show | 21 | 334 | 0.0629 | 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 | a0001c0001t0001g0248a0001c0001t0001g0256a0001c0001t0003g0307others(3): Show | 6 | 334 | 0.0180 | 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 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(205): Show | 212 | 306 | 0.6928 | 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 | a0001c0001t0001g0298a0001c0001t0001g0299a0001c0001t0001g0300 | 3 | 306 | 0.0098 | 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 | a0001c0002t0002g0045a0001c0002t0002g0046a0001c0002t0002g0232 | 3 | 306 | 0.0098 | 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 | a0001c0002t0002g0231a0001c0002t0005g0220a0001c0002t0005g0227 | 3 | 306 | 0.0098 | 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 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0027others(121): Show | 127 | 306 | 0.4150 | 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 | a0001c0001t0001g0208a0001c0001t0001g0212a0001c0001t0001g0213others(4): Show | 7 | 324 | 0.0216 | 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 |
a0001a0010 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0002g0218a0001c0002t0001g0153a0001c0003t0001g0292others(3): Show | 6 | 324 | 0.0185 | 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 |
a0001a0003a0011others(1): Show | a0001c0001a0001c0002a0003c0035others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(8): Show | a0001c0001t0001g0028a0001c0001t0001g0061a0001c0001t0002g0125others(14): Show | 17 | 236 | 0.0720 | 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 | a0001c0001t0003g0163a0001c0001t0003g0234a0001c0003t0001g0090 | 3 | 260 | 0.0115 | 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 | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0082others(24): Show | 27 | 260 | 0.1039 | 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 |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0010others(1): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(2): Show | a0001c0001t0001g0082a0001c0001t0001g0085a0001c0001t0001g0147others(28): Show | 31 | 260 | 0.1192 | 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(107): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0014a0001c0001t0001g0110a0001c0001t0001g0119others(107): Show | 110 | 238 | 0.4622 | 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(102): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(15): Show | a0001c0001t0001g0027a0001c0001t0001g0043a0001c0001t0001g0045others(102): Show | 105 | 238 | 0.4412 | 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 | a0001c0001t0001g0021a0001c0001t0001g0071a0001c0001t0001g0072others(34): Show | 37 | 238 | 0.1555 | 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 | a0001c0001t0001g0225a0001c0001t0001g0230a0001c0001t0007g0103others(2): Show | 5 | 238 | 0.0210 | 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 | a0001c0001t0001g0071a0001c0001t0001g0211a0001c0001t0001g0218others(6): Show | 9 | 238 | 0.0378 | 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 | a0001c0001t0001g0008a0001c0001t0001g0026a0001c0001t0001g0081others(22): Show | 25 | 238 | 0.1050 | 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 |
a0002a0004a0006others(1): Show | a0002c0002a0002c0019a0004c0006others(2): Show | a0002c0002t0001a0002c0002t0008a0002c0002t0014others(4): Show | a0002c0002t0001g0009a0002c0002t0001g0010a0002c0002t0001g0012others(50): Show | 53 | 238 | 0.2227 | 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 |
a0001a0009 | a0001c0005a0009c0018 | a0001c0005t0005a0001c0005t0011a0009c0018t0005 | a0001c0005t0005g0017a0001c0005t0005g0018a0001c0005t0005g0032others(6): Show | 9 | 238 | 0.0378 | 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 | a0001c0001t0002g0171a0001c0001t0002g0175 | 2 | 238 | 0.0084 | 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 | a0002c0002t0001g0034a0002c0002t0001g0048a0002c0002t0001g0049others(4): Show | 7 | 238 | 0.0294 | 5 | c.421 others(24): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 19/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53285478 | T | TAATGA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0021others(234): Show | 237 | 238 | 0.9958 | 5 | c.496 others(22): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 24/38 | 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 | a0001c0001t0001g0042a0001c0001t0001g0157a0001c0001t0001g0161others(14): Show | 24 | 384 | 0.0625 | 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 | a0001c0001t0001g0022a0001c0001t0001g0039a0001c0001t0001g0180others(6): Show | 11 | 384 | 0.0287 | 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 | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0055others(26): Show | 29 | 384 | 0.0755 | 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 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0076others(15): Show | 46 | 447 | 0.1029 | 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 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0123others(20): Show | 44 | 440 | 0.1000 | 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 | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0115others(25): Show | 31 | 440 | 0.0705 | 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(13): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0004others(1): Show | a0002c0002t0002a0002c0002t0003a0003c0003t0003others(2): Show | a0002c0002t0002g0031a0002c0002t0002g0047a0002c0002t0002g0165others(8): Show | 16 | 440 | 0.0364 | 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 | a0006c0006t0002g0008a0009c0009t0001g0111a0012c0012t0001g0150 | 14 | 440 | 0.0318 | 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 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(11): Show | 35 | 468 | 0.0748 | 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 | a0001c0001t0003g0095a0001c0004t0003g0006a0001c0004t0003g0035others(6): Show | 22 | 434 | 0.0507 | 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 | a0001c0001t0002g0128a0001c0001t0002g0131a0002c0002t0002g0037others(12): Show | 17 | 426 | 0.0399 | 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 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0030others(34): Show | 38 | 208 | 0.1827 | 5 | c.507 others(22): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHIC1_chrX_73558197_73692111 | 73658248 | G | GTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0120 | 2 | 208 | 0.0096 | 5 | c.508 others(24): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHIC1_chrX_73558197_73692111 | 73688075 | A | ATGGTT | downstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0038 | 1 | 208 | 0.0048 | 5 | c.*70 others(16): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 965 | chrX | TogoVar | ||||||
CHIT1_chr1_203211079_203234673 | 203211536 | T | TTTTTG | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02572.hp2 HG03209.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074a0002c0002t0001g0075a0002c0002t0001g0140 | 3 | 484 | 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 | a0006c0008t0001g0031a0006c0008t0001g0037a0006c0008t0001g0038others(2): Show | 8 | 484 | 0.0165 | 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 | a0001c0001t0001g0001a0001c0001t0001g0157a0001c0001t0001g0158others(43): Show | 47 | 276 | 0.1703 | 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 |
a0001a0009a0022 | a0001c0001a0009c0010a0022c0017 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0128a0001c0001t0001g0129a0001c0001t0001g0130others(22): Show | 25 | 290 | 0.0862 | 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 |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0005c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0017others(63): Show | 66 | 290 | 0.2276 | 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 |
a0001a0009a0013 | a0001c0001a0009c0010a0013c0021 | a0001c0001t0002a0009c0010t0002a0013c0021t0001 | a0001c0001t0002g0005a0009c0010t0002g0035a0013c0021t0001g0234 | 3 | 290 | 0.0103 | 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 | a0002c0002t0001g0118a0002c0002t0001g0197a0002c0002t0002g0123 | 3 | 290 | 0.0103 | 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 | a0001c0001t0001g0220a0001c0001t0001g0221a0008c0007t0001g0289 | 3 | 290 | 0.0103 | 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 | a0001c0001t0002g0297a0001c0001t0002g0298a0001c0001t0002g0299others(3): Show | 6 | 392 | 0.0153 | 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 | a0001c0001t0001g0006a0001c0001t0001g0014a0001c0001t0001g0019others(37): Show | 56 | 408 | 0.1373 | 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 | a0001c0001t0003g0005a0001c0001t0008g0021a0001c0002t0005g0013others(3): Show | 9 | 438 | 0.0206 | 5 | c.-50 others(14): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 424 | chr17 | TogoVar |