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 | 87183385 | GTTT | G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02280.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0002c0002t0001a0002c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0025a0001c0001t0001g0026others(11): Show | 14 | 152 | 0.0921 | -3 | c.432 others(22): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87256006 | TATA | T | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG01261.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0044a0001c0001t0001g0088others(1): Show | 4 | 152 | 0.0263 | -3 | c.771 others(22): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87256008 | TATA | T | intron_variant | MODIFIER | HG00140.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0151 | 2 | 152 | 0.0132 | -3 | c.771 others(22): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87256010 | TATA | T | intron_variant | MODIFIER | HG01175.hp2 HG03688.hp2 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0032a0001c0001t0001g0152 | 3 | 152 | 0.0197 | -3 | c.771 others(22): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87257922 | TAAC | T | intron_variant | MODIFIER | HG01167.hp2 HG02922.hp1 HG03195.hp1 others(1): Show |
a0001a0002 | a0001c0008a0002c0005 | a0001c0008t0001a0002c0005t0001 | a0001c0008t0001g0147a0002c0005t0001g0082a0002c0005t0001g0084others(1): Show | 4 | 152 | 0.0263 | -3 | c.771 others(22): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87266438 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0018others(22): Show | 25 | 152 | 0.1645 | -3 | c.772 others(22): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87276975 | AATT | A | intron_variant | MODIFIER | HG02040.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0121 | 2 | 152 | 0.0132 | -3 | c.772 others(20): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87314604 | GTAT | G | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00639.hp2 others(43): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(43): Show | 46 | 152 | 0.3026 | -3 | c.104 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87323799 | TCTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00642.hp2 others(15): Show |
a0001a0004a0006 | a0001c0001a0004c0003a0006c0009 | a0001c0001t0001a0004c0003t0001a0006c0009t0001 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0032others(15): Show | 18 | 152 | 0.1184 | -3 | c.104 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87334721 | TTTC | T | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01261.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0033a0001c0001t0001g0034others(15): Show | 18 | 152 | 0.1184 | -3 | c.104 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87339127 | GAGA | G | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00639.hp2 others(41): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(41): Show | 44 | 152 | 0.2895 | -3 | c.104 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87344254 | AGTG | A | intron_variant | MODIFIER | HG01167.hp2 HG03195.hp1 NA19043.hp2 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0082a0002c0005t0001g0084a0002c0005t0001g0086 | 3 | 152 | 0.0197 | -3 | c.104 others(22): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87360307 | TGAG | T | intron_variant | MODIFIER | HG02622.hp2 HG03516.hp1 |
a0005a0007 | a0005c0007a0007c0010 | a0005c0007t0002a0007c0010t0002 | a0005c0007t0002g0144a0007c0010t0002g0072 | 2 | 152 | 0.0132 | -3 | c.130 others(22): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87364034 | ATGT | A | 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 | -3 | c.130 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87377156 | TATA | T | intron_variant | MODIFIER | HG02809.hp1 HG03486.hp2 NA18522.hp2 |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0002a0004c0003t0002 | a0001c0001t0002g0003a0001c0001t0002g0069a0004c0003t0002g0007 | 3 | 152 | 0.0197 | -3 | c.130 others(22): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 10/10 | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87377361 | TCTC | T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0026 | 2 | 152 | 0.0132 | -3 | c.130 others(22): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD2_chr20_35963590_36035700 | 35975615 | ATTC | A | intron_variant | MODIFIER | HG01361.hp1 HG02109.hp1 HG02258.hp1 others(8): Show |
a0001a0002a0012others(1): Show | a0001c0001a0002c0002a0012c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0117a0001c0001t0002g0112a0001c0001t0002g0113others(8): Show | 11 | 268 | 0.0410 | -3 | c.190 others(18): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNBD2_chr20_35963590_36035700 | 35987080 | TGGA | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(85): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0005others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(4): Show | a0001c0001t0001g0011a0002c0002t0001g0006a0002c0002t0001g0017others(83): Show | 88 | 268 | 0.3284 | -3 | c.717 others(18): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNBD2_chr20_35963590_36035700 | 36008928 | ACTT | A | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0117a0001c0001t0001g0121a0001c0001t0001g0231others(3): Show | 6 | 268 | 0.0224 | -3 | c.114 others(20): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 9/11 | chr20 | TogoVar | ||||||
CNBD2_chr20_35963590_36035700 | 36017058 | CAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(66): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0002c0005others(3): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0002g0082a0001c0001t0002g0112a0001c0001t0002g0113others(65): Show | 69 | 268 | 0.2575 | -3 | c.126 others(22): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNBD2_chr20_35963590_36035700 | 36033507 | ATTT | A | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02723.hp1 HG02896.hp2 others(2): Show |
a0001a0014 | a0001c0001a0001c0004a0014c0011 | a0001c0001t0002a0001c0004t0002a0014c0011t0002 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0004t0002g0021others(2): Show | 5 | 268 | 0.0187 | -3 | c.*28 others(14): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 2808 | chr20 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129164418 | ATGG | A | downstream_gene_variant | MODIFIER | HG01496.hp2 HG01891.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0026 | a0001c0001t0001g0188a0001c0001t0001g0270a0001c0002t0026g0190 | 3 | 430 | 0.0070 | -3 | c.*60 others(14): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 3408 | chr3 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129167590 | GTAT | G | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02572.hp2 HG02717.hp1 |
a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0022a0001c0002t0011g0230 | 3 | 430 | 0.0070 | -3 | c.*28 others(14): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 236 | chr3 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129175432 | CTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(358): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(307): Show | 361 | 430 | 0.8395 | -3 | c.-14 others(20): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74556356 | GTGC | G | conservative_inframe_deletion | MODERATE | HG02622.hp2 HG03041.hp1 HG03098.hp1 others(2): Show |
a0011a0017 | a0011c0021a0017c0027 | a0011c0021t0001a0011c0021t0004a0017c0027t0004others(1): Show | a0011c0021t0001g0091a0011c0021t0004g0065a0011c0021t0004g0066others(2): Show | 5 | 390 | 0.0128 | -3 | c.58_ others(8): Show |
p.Leu others(5): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 2/12 | 226/4342 | 58/1524 | 20/507 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |
CNDP1_chr18_74529500_74592212 | 74570200 | AAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp2 others(61): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0132a0001c0001t0001g0213a0001c0001t0001g0232others(59): Show | 64 | 390 | 0.1641 | -3 | c.757 others(18): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNDP1_chr18_74529500_74592212 | 74572809 | AAAG | A | intron_variant | MODIFIER | HG01257.hp1 HG02572.hp1 HG02717.hp1 others(7): Show |
a0001a0002a0015others(4): Show | a0001c0001a0002c0004a0015c0046others(6): Show | a0001c0001t0004a0002c0004t0005a0015c0046t0002others(6): Show | a0001c0001t0004g0007a0002c0004t0005g0108a0002c0004t0005g0382others(7): Show | 10 | 390 | 0.0256 | -3 | c.841 others(20): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNEP1R1_chr16_50020225_50042081 | 50022211 | GTTT | G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00639.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0013others(13): Show | 43 | 378 | 0.1138 | -3 | c.-31 others(14): Show |
CNEP1R1 | ENSG00000205423.12 | transcript | ENST00000427478.7 | protein_coding | 3013 | chr16 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 47942359 | GTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(229): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(216): Show | 232 | 366 | 0.6339 | -3 | c.438 others(18): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 8/10 | chr4 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 47957892 | ATTT | A | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00621.hp1 others(66): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0226a0001c0001t0001g0227a0001c0001t0001g0228others(61): Show | 69 | 366 | 0.1885 | -3 | c.-14 others(20): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 47962343 | CAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(71): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0012others(63): Show | 74 | 366 | 0.2022 | -3 | c.-14 others(20): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 47968485 | AGGT | A | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204a0001c0001t0001g0205a0001c0001t0001g0206others(1): Show | 4 | 366 | 0.0109 | -3 | c.-15 others(22): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 47971914 | AAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(63): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0213others(61): Show | 66 | 366 | 0.1803 | -3 | c.-15 others(20): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151730125 | TATG | T | upstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0005 | 1 | 336 | 0.0030 | -3 | c.-48 others(14): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 4620 | chrX | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151742803 | TCTC | T | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0101 | 1 | 336 | 0.0030 | -3 | c.589 others(18): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | chrX | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151746475 | CCTT | C | downstream_gene_variant | MODIFIER | HG02630.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0056 | 1 | 336 | 0.0030 | -3 | c.*19 others(14): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 912 | chrX | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151750361 | ACTT | A | downstream_gene_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 | 1 | 336 | 0.0030 | -3 | c.*58 others(14): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 4798 | chrX | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151750372 | ACAT | A | downstream_gene_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 | 1 | 336 | 0.0030 | -3 | c.*58 others(14): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 4809 | chrX | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151750418 | AGGT | A | downstream_gene_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 | 1 | 336 | 0.0030 | -3 | c.*59 others(14): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 4855 | chrX | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879804 | CTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01496.hp2 HG03492.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0222a0001c0003t0003g0265a0001c0003t0003g0296 | 3 | 360 | 0.0083 | -3 | c.*43 others(14): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2535 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879808 | CTTT | C | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01071.hp1 others(1): Show |
a0005a0014a0048 | a0005c0030a0014c0023a0048c0117 | a0005c0030t0003a0014c0023t0002a0048c0117t0026 | a0005c0030t0003g0001a0014c0023t0002g0349a0048c0117t0026g0186 | 4 | 360 | 0.0111 | -3 | c.*43 others(14): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2531 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57880166 | ATTT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(62): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0003a0001c0001t0013a0001c0002t0003others(45): Show | a0001c0001t0003g0224a0001c0001t0003g0311a0001c0001t0013g0206others(61): Show | 65 | 360 | 0.1806 | -3 | c.*39 others(14): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2173 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57899322 | GAAA | G | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp1 others(72): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0003a0001c0004others(51): Show | a0001c0001t0007a0001c0001t0012a0001c0003t0012others(65): Show | a0001c0001t0007g0290a0001c0001t0012g0212a0001c0003t0012g0266others(71): Show | 75 | 360 | 0.2083 | -3 | c.297 others(22): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 29/32 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57899330 | AAAT | A | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02486.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0007a0001c0015a0001c0028others(5): Show | a0001c0007t0002a0001c0015t0001a0001c0028t0042others(5): Show | a0001c0007t0002g0073a0001c0015t0001g0335a0001c0028t0042g0069others(6): Show | 9 | 360 | 0.0250 | -3 | c.297 others(22): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 29/32 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57902066 | TTTG | T | intron_variant | MODIFIER | HG02647.hp1 HG02976.hp1 HG03041.hp2 others(1): Show |
a0001a0002 | a0001c0004a0001c0013a0002c0011others(1): Show | a0001c0004t0022a0001c0013t0018a0002c0011t0018others(1): Show | a0001c0004t0022g0107a0001c0013t0018g0294a0002c0011t0018g0341others(1): Show | 4 | 360 | 0.0111 | -3 | c.279 others(20): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 27/32 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57952493 | CTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG02257.hp1 HG02717.hp1 others(5): Show |
a0002a0010a0047others(1): Show | a0002c0005a0002c0006a0010c0010others(2): Show | a0002c0005t0001a0002c0006t0001a0002c0006t0006others(3): Show | a0002c0005t0001g0026a0002c0006t0001g0100a0002c0006t0006g0323others(5): Show | 8 | 360 | 0.0222 | -3 | c.875 others(20): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 12/32 | chr16 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86600776 | ATTT | A | intron_variant | MODIFIER | HG01167.hp1 HG02257.hp1 HG02559.hp2 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0021others(2): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0005others(4): Show | a0001c0001t0001g0211a0001c0001t0005g0074a0001c0001t0005g0184others(9): Show | 12 | 288 | 0.0417 | -3 | c.178 others(22): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 15/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86606146 | GTTT | G | intron_variant | MODIFIER | HG01069.hp2 HG02572.hp2 HG02717.hp2 others(4): Show |
a0001a0006a0008 | a0001c0001a0006c0006a0008c0008 | a0001c0001t0001a0006c0006t0001a0008c0008t0001 | a0001c0001t0001g0211a0001c0001t0001g0270a0006c0006t0001g0075others(4): Show | 7 | 288 | 0.0243 | -3 | c.166 others(22): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 14/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86663025 | CTGT | C | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG01109.hp1 others(21): Show |
a0001a0003a0014 | a0001c0001a0001c0016a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0183a0001c0001t0001g0196a0001c0001t0001g0197others(21): Show | 24 | 288 | 0.0833 | -3 | c.852 others(20): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 6/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86674941 | TTTG | T | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(53): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0015a0001c0016others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0152a0001c0001t0001g0160a0001c0001t0001g0163others(53): Show | 56 | 288 | 0.1944 | -3 | c.339 others(20): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 3/17 | chr8 | TogoVar |