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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNBD1_chr8_86861415_87387859 | 86869347 | C | CACAACA | intron_variant | MODIFIER | HG01106.hp2 HG01257.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 2 | 152 | 0.0132 | 6 | c.88+ others(21): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86874986 | T | TTATATA | intron_variant | MODIFIER | HG00558.hp1 HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0120 | 3 | 152 | 0.0197 | 6 | c.88+ others(21): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86878080 | C | CTGTGTG | intron_variant | MODIFIER | HG01070.hp1 HG01167.hp2 HG01175.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0002c0002t0001a0002c0005t0001 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(11): Show | 14 | 152 | 0.0921 | 6 | c.89- others(21): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86878105 | T | TGTGTGA | intron_variant | MODIFIER | HG01106.hp2 HG01257.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0023 | 3 | 152 | 0.0197 | 6 | c.89- others(21): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86925482 | A | AGAGTGT | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp1 NA18522.hp2 |
a0004 | a0004c0003 | a0004c0003t0001a0004c0003t0002 | a0004c0003t0001g0008a0004c0003t0001g0009a0004c0003t0002g0007 | 3 | 152 | 0.0197 | 6 | c.273 others(25): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86940132 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(59): Show |
a0001a0006 | a0001c0001a0001c0006a0006c0009 | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0016others(59): Show | 62 | 152 | 0.4079 | 6 | c.431 others(21): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86951581 | C | CAAAAAA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02451.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0122others(2): Show | 5 | 152 | 0.0329 | 6 | c.431 others(25): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86969791 | T | TACACAC | intron_variant | MODIFIER | HG01243.hp1 HG03688.hp2 NA18941.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0024 | 3 | 152 | 0.0197 | 6 | c.431 others(25): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87036594 | T | TAAAAAA | intron_variant | MODIFIER | HG01167.hp2 HG03195.hp1 HG03471.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0005a0004c0003others(1): Show | a0001c0001t0001a0002c0005t0001a0004c0003t0002others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0039a0002c0005t0001g0082others(4): Show | 7 | 152 | 0.0461 | 6 | c.431 others(25): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87241268 | A | ATTTTTT | intron_variant | MODIFIER | HG01070.hp1 HG03195.hp1 HG03486.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0015a0002c0002t0001g0083a0002c0005t0001g0084others(2): Show | 5 | 152 | 0.0329 | 6 | c.771 others(23): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87255972 | A | AATATAT | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0021a0001c0001t0001g0070others(1): Show | 4 | 152 | 0.0263 | 6 | c.771 others(25): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87345731 | T | TTAAAAA | intron_variant | MODIFIER | HG02622.hp2 HG02809.hp1 HG03486.hp2 others(2): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0003a0005c0007others(1): Show | a0001c0001t0002a0004c0003t0002a0005c0007t0002others(1): Show | a0001c0001t0002g0003a0001c0001t0002g0069a0004c0003t0002g0007others(2): Show | 5 | 152 | 0.0329 | 6 | c.104 others(25): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87352478 | C | CAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01169.hp2 HG03209.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0022a0001c0001t0001g0048a0001c0001t0001g0103others(2): Show | 5 | 152 | 0.0329 | 6 | c.115 others(23): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87361689 | A | AATATAT | intron_variant | MODIFIER | HG01099.hp2 HG01192.hp2 HG01515.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0110others(1): Show | 4 | 152 | 0.0263 | 6 | c.130 others(25): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD2_chr20_35963590_36035700 | 35989866 | G | GGAGAGA | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00597.hp1 others(47): Show |
a0002a0005a0006 | a0002c0002a0002c0005a0005c0007others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0005t0001others(2): Show | a0002c0002t0001g0006a0002c0002t0001g0017a0002c0002t0001g0036others(46): Show | 50 | 268 | 0.1866 | 6 | c.855 others(23): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNBP_chr3_129162827_129188896 | 129164393 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00621.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0023a0001c0001t0001g0055others(11): Show | 14 | 430 | 0.0326 | 6 | c.*60 others(17): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 3433 | chr3 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129172691 | G | GACACAC | intron_variant | MODIFIER | HG00597.hp2 NA18943.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0046a0001c0001t0006g0132a0001c0001t0006g0168 | 3 | 430 | 0.0070 | 6 | c.-14 others(21): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129172695 | G | GACACAC | intron_variant | MODIFIER | HG01123.hp1 HG01123.hp2 HG01256.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0020a0001c0001t0001g0036others(27): Show | 37 | 430 | 0.0861 | 6 | c.-14 others(21): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74551361 | A | AACACAC | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp1 HG00738.hp2 others(32): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0152a0001c0001t0001g0171a0001c0001t0002g0174others(32): Show | 35 | 390 | 0.0897 | 6 | c.25- others(21): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNDP1_chr18_74529500_74592212 | 74560010 | C | CTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01346.hp2 HG01884.hp2 others(12): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0004g0007a0001c0002t0001g0286a0001c0002t0001g0339others(12): Show | 15 | 390 | 0.0385 | 6 | c.303 others(21): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNDP1_chr18_74529500_74592212 | 74575831 | A | ATGTATG | intron_variant | MODIFIER | HG00738.hp1 HG02056.hp2 HG02074.hp1 others(10): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(8): Show | a0001c0001t0001g0190a0001c0001t0001g0278a0001c0001t0003g0061others(10): Show | 13 | 390 | 0.0333 | 6 | c.842 others(23): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNDP1_chr18_74529500_74592212 | 74581218 | C | CTGTGTG | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00558.hp1 others(60): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0043others(19): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(36): Show | a0001c0001t0002g0151a0001c0001t0002g0229a0001c0001t0002g0230others(58): Show | 63 | 390 | 0.1615 | 6 | c.130 others(23): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNDP2_chr18_74491363_74528454 | 74494559 | A | ATGTGTG | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0196a0001c0001t0002g0169a0001c0001t0002g0172others(3): Show | 6 | 424 | 0.0142 | 6 | c.-19 others(17): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 1803 | chr18 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 47971168 | T | TTGTGTG | intron_variant | MODIFIER | HG00609.hp2 HG01993.hp1 HG02300.hp2 others(18): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0005 | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(2): Show | a0001c0001t0001g0341a0001c0001t0003g0002a0001c0001t0003g0046others(16): Show | 21 | 366 | 0.0574 | 6 | c.-15 others(25): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151749311 | C | CGTGTGT | downstream_gene_variant | MODIFIER | HG01361.hp2 NA19060.hp1 NA19074.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0013a0001c0004t0003 | a0001c0001t0013g0101a0001c0004t0003g0007 | 3 | 336 | 0.0089 | 6 | c.*48 others(17): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 3748 | chrX | TogoVar | ||||||
CNGA3_chr2_98341456_98403601 | 98367170 | T | TATTTTC | intron_variant | MODIFIER | HG00558.hp2 HG01243.hp1 NA18948.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0004 | a0001c0001t0001a0001c0012t0001a0002c0004t0002 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0104others(3): Show | 6 | 338 | 0.0178 | 6 | c.-37 others(23): Show |
CNGA3 | ENSG00000144191.12 | transcript | ENST00000272602.7 | protein_coding | 1/7 | chr2 | TogoVar | ||||||
CNGA3_chr2_98341456_98403601 | 98399954 | T | TGTGTGC | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00597.hp2 others(54): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0017t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0013others(47): Show | 57 | 338 | 0.1686 | 6 | c.*26 others(17): Show |
CNGA3 | ENSG00000144191.12 | transcript | ENST00000272602.7 | protein_coding | 1354 | chr2 | TogoVar | ||||||
CNGA4_chr11_6234089_6249479 | 6244585 | T | TACACAC | downstream_gene_variant | MODIFIER | HG00597.hp2 HG02109.hp2 NA18522.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0014 | 8 | 412 | 0.0194 | 6 | c.*17 others(15): Show |
CNGA4 | ENSG00000132259.13 | transcript | ENST00000379936.3 | protein_coding | 107 | chr11 | TogoVar | ||||||
CNGA4_chr11_6234089_6249479 | 6247660 | G | GTTTTGT | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01081.hp2 HG01168.hp1 others(13): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0004c0006t0001g0001 | 16 | 412 | 0.0388 | 6 | c.*32 others(17): Show |
CNGA4 | ENSG00000132259.13 | transcript | ENST00000379936.3 | protein_coding | 3182 | chr11 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879741 | T | TTTTTTC | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00733.hp2 others(21): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0005a0001c0002t0002a0001c0002t0005others(14): Show | a0001c0001t0005g0274a0001c0002t0002g0183a0001c0002t0005g0129others(20): Show | 24 | 360 | 0.0667 | 6 | c.*44 others(17): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2598 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879788 | T | TCCTTCC | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG01256.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0002t0005a0001c0003t0002others(6): Show | a0001c0001t0002g0273a0001c0001t0002g0312a0001c0002t0005g0142others(7): Show | 11 | 360 | 0.0306 | 6 | c.*43 others(17): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2551 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57885557 | C | CCTCTCT | intron_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01071.hp2 others(24): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0005others(16): Show | a0001c0001t0002g0252a0001c0001t0002g0273a0001c0001t0002g0309others(24): Show | 27 | 360 | 0.0750 | 6 | c.346 others(25): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 32/32 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57926932 | A | ACCATTG | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02486.hp1 others(3): Show |
a0001a0002a0004others(2): Show | a0001c0053a0002c0109a0004c0014others(3): Show | a0001c0053t0004a0002c0109t0004a0004c0014t0005others(3): Show | a0001c0053t0004g0200a0002c0109t0004g0108a0004c0014t0005g0346others(3): Show | 6 | 360 | 0.0167 | 6 | c.153 others(25): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 17/32 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57973399 | A | ATGTGCG | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG01168.hp1 others(13): Show |
a0001a0002a0003others(6): Show | a0001c0004a0001c0007a0002c0005others(9): Show | a0001c0004t0001a0001c0004t0003a0001c0007t0003others(11): Show | a0001c0004t0001g0133a0001c0004t0001g0150a0001c0004t0003g0151others(13): Show | 16 | 360 | 0.0444 | 6 | c.-23 others(17): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2272 | chr16 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86635861 | T | TATATAC | intron_variant | MODIFIER | HG00280.hp1 HG02015.hp1 HG02602.hp2 others(12): Show |
a0001a0002a0018 | a0001c0001a0002c0002a0018c0022 | a0001c0001t0001a0002c0002t0001a0018c0022t0001 | a0001c0001t0001g0021a0001c0001t0001g0023a0001c0001t0001g0025others(12): Show | 15 | 288 | 0.0521 | 6 | c.117 others(25): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 10/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86693416 | T | TTTTTTA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(103): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0041others(103): Show | 106 | 288 | 0.3681 | 6 | c.339 others(25): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 3/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86720837 | T | TGTACAC | intron_variant | MODIFIER | HG03834.hp2 NA18939.hp1 NA18950.hp1 others(2): Show |
a0001a0004a0005 | a0001c0001a0004c0003a0005c0005 | a0001c0001t0001a0004c0003t0001a0005c0005t0007 | a0001c0001t0001g0117a0004c0003t0001g0131a0004c0003t0001g0132others(2): Show | 5 | 288 | 0.0174 | 6 | c.338 others(23): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 3/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86720839 | T | TACACAC | intron_variant | MODIFIER | HG00280.hp2 HG01081.hp2 HG01192.hp1 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0003t0001others(1): Show | a0001c0001t0001g0118a0001c0001t0001g0133a0002c0002t0001g0135others(2): Show | 5 | 288 | 0.0174 | 6 | c.338 others(23): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 3/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86735042 | G | GGTTTTT | intron_variant | MODIFIER | HG01123.hp1 HG01167.hp2 HG01258.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0011a0005c0005t0002 | a0001c0001t0001g0109a0001c0001t0001g0111a0001c0001t0011g0110others(2): Show | 5 | 288 | 0.0174 | 6 | c.211 others(23): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 2/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86735144 | C | CTTTTTT | intron_variant | MODIFIER | HG02071.hp1 HG02559.hp2 HG02895.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0021a0003c0004others(1): Show | a0001c0001t0001a0002c0021t0005a0003c0004t0002others(1): Show | a0001c0001t0001g0032a0001c0001t0001g0091a0001c0001t0001g0092others(4): Show | 7 | 288 | 0.0243 | 6 | c.211 others(23): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 2/17 | chr8 | TogoVar | ||||||
CNIH3_chr1_224611317_224745554 | 224616343 | G | GGCGGCA | 5_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02572.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012 | a0001c0001t0008g0018a0001c0001t0008g0019a0001c0001t0008g0020others(5): Show | 8 | 358 | 0.0224 | 6 | c.-82 others(15): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 1/6 | 817 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
CNIH3_chr1_224611317_224745554 | 224674272 | G | GTTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02723.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0267a0001c0001t0001g0277a0001c0001t0001g0314others(3): Show | 6 | 358 | 0.0168 | 6 | c.82- others(21): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNIH3_chr1_224611317_224745554 | 224705117 | A | AAAAAAT | intron_variant | MODIFIER | HG01123.hp2 HG01261.hp1 HG01952.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273a0001c0001t0001g0292a0001c0001t0001g0315others(2): Show | 5 | 358 | 0.0140 | 6 | c.198 others(25): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNIH3_chr1_224611317_224745554 | 224744260 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG00597.hp2 NA18949.hp2 NA18967.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0143a0001c0001t0001g0150others(3): Show | 6 | 358 | 0.0168 | 6 | c.*49 others(17): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 3707 | chr1 | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21372554 | C | CATATAT | upstream_gene_variant | MODIFIER | NA18984.hp1 NA19056.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0107a0001c0002t0001g0108 | 2 | 163 | 0.0123 | 6 | c.-23 others(17): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 1863 | chrX | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21374113 | G | GGGCTCT | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02886.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(2): Show | a0001c0001t0001g0158a0001c0001t0006g0155a0001c0001t0006g0157others(8): Show | 11 | 163 | 0.0675 | 6 | c.-78 others(15): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 304 | chrX | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21374594 | G | GGCAGCA | 5_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02055.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0021a0001c0001t0022 | a0001c0001t0020g0141a0001c0001t0021g0088a0001c0001t0022g0033 | 3 | 163 | 0.0184 | 6 | c.-27 others(15): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 1/22 | 265 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
CNKSR2_chrX_21369418_21659689 | 21409228 | T | TTATATA | intron_variant | MODIFIER | HG00621.hp1 HG02055.hp1 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022a0001c0001t0043 | a0001c0001t0002g0003a0001c0001t0022g0033a0001c0001t0043g0007 | 3 | 163 | 0.0184 | 6 | c.65- others(23): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21433653 | T | TACACAC | intron_variant | MODIFIER | HG03486.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0076a0001c0001t0009g0013 | 2 | 163 | 0.0123 | 6 | c.431 others(21): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21483593 | A | AATATAT | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0123 | 1 | 163 | 0.0061 | 6 | c.562 others(23): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar |