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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNMA1_chr10_76879882_77642808 | 77324955 | CTCTCTCT others(15): Show |
C | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 | 1 | 106 | 0.0094 | -22 | c.541 others(41): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 2/27 | chr10 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77382978 | GTGTGTGT others(15): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0064 | 1 | 106 | 0.0094 | -22 | c.540 others(41): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 2/27 | chr10 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77382980 | GTGTGTGT others(15): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 106 | 0.0094 | -22 | c.540 others(41): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 2/27 | chr10 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77382984 | GTGTGTGT others(15): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG01928.hp2 |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0010 | a0001c0002t0008g0102a0001c0002t0010g0086 | 2 | 106 | 0.0189 | -22 | c.540 others(41): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 2/27 | chr10 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77439127 | GAAGAGAA others(15): Show |
G | intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 106 | 0.0094 | -22 | c.379 others(41): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77439142 | GAAGAGAA others(15): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 106 | 0.0094 | -22 | c.379 others(41): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | ||||||
KCNMA1_chr10_76879882_77642808 | 77439147 | GAAAAGAG others(15): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 106 | 0.0094 | -22 | c.379 others(41): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178571447 | GATATATA others(15): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098 | 1 | 232 | 0.0043 | -22 | c.-68 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178614247 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG02027.hp2 NA18979.hp2 NA19077.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0076a0001c0001t0003g0028a0001c0002t0001g0099others(1): Show | 4 | 232 | 0.0172 | -22 | c.-68 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178757715 | TATATGTA others(15): Show |
T | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0195 | 1 | 232 | 0.0043 | -22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178758040 | ATCTAGAT others(15): Show |
A | intron_variant | MODIFIER | HG01943.hp1 NA20752.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0006 | a0001c0001t0003g0058a0001c0002t0006g0199 | 2 | 232 | 0.0086 | -22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759476 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 | 1 | 232 | 0.0043 | -22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178759614 | TACATATA others(15): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 232 | 0.0043 | -22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178760259 | GATATATC others(15): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0208 | 1 | 232 | 0.0043 | -22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178778455 | GACACACA others(15): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG00738.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0101a0001c0001t0001g0105a0001c0001t0001g0161others(41): Show | 44 | 232 | 0.1897 | -22 | c.-67 others(41): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNN1_chr19_17962107_18005085 | 17970289 | ATTTTTTT others(15): Show |
A | intron_variant | MODIFIER | HG02132.hp2 HG02602.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0150a0001c0001t0003g0106 | 2 | 378 | 0.0053 | -22 | c.-82 others(39): Show |
KCNN1 | ENSG00000105642.16 | transcript | ENST00000684775.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KCNN3_chr1_154692455_154875281 | 154728193 | CTTTTAAT others(15): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0008 | a0008c0019 | a0008c0019t0012 | a0008c0019t0012g0208 | 1 | 238 | 0.0042 | -22 | c.159 others(41): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 4/7 | chr1 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2544226 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 208 | 0.0048 | -22 | c.477 others(41): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNQ1_chr11_2440008_2854105 | 2733774 | CCACACAC others(15): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02818.hp2 HG02965.hp2 others(6): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0042a0001c0001t0001g0137others(6): Show | 9 | 208 | 0.0433 | -22 | c.151 others(43): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNQ5_chr6_72617064_73203853 | 72779821 | CTGTGTGT others(15): Show |
C | intron_variant | MODIFIER | HG00741.hp2 NA21309.hp1 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0011a0001c0010t0039 | a0001c0002t0011g0053a0001c0010t0039g0027 | 2 | 80 | 0.0250 | -22 | c.398 others(43): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNQ5_chr6_72617064_73203853 | 73067863 | GATATATA others(15): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG01099.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0002g0006a0001c0001t0002g0036a0001c0001t0003g0011others(28): Show | 31 | 80 | 0.3875 | -22 | c.617 others(39): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNQ5_chr6_72617064_73203853 | 73124966 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0012others(2): Show | a0001c0001t0002g0006a0001c0001t0009g0023a0001c0001t0009g0037others(4): Show | 7 | 80 | 0.0875 | -22 | c.124 others(39): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNQ5_chr6_72617064_73203853 | 73197580 | TACACACA others(15): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02257.hp2 HG02647.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0018a0001c0001t0008g0032a0001c0001t0008g0060 | 3 | 80 | 0.0375 | -22 | c.*22 others(33): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 14/14 | 2207 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
KCNRG_chr13_50010444_50025922 | 50015092 | AAAATATA others(15): Show |
A | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0013 | 5 | 448 | 0.0112 | -22 | c.-40 others(31): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 351 | chr13 | TogoVar | ||||||
KCNS3_chr2_17873667_17937958 | 17884260 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG02027.hp2 NA18952.hp1 NA18998.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0261a0001c0002t0001g0262a0001c0002t0001g0263others(1): Show | 4 | 384 | 0.0104 | -22 | c.-25 others(41): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNS3_chr2_17873667_17937958 | 17921913 | GTGTATAT others(15): Show |
G | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0198 | 1 | 384 | 0.0026 | -22 | c.-60 others(39): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNT1_chr9_135697185_135800502 | 135726751 | CCCTCTCT others(15): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01081.hp2 others(35): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0001g0183a0001c0001t0001g0214a0001c0001t0001g0221others(35): Show | 38 | 272 | 0.1397 | -22 | c.254 others(41): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNT2_chr1_196220779_196613440 | 196342426 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 136 | 0.0074 | -22 | c.140 others(39): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196435139 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 136 | 0.0074 | -22 | c.639 others(39): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196495231 | TTAGGCTT others(15): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 136 | 0.0074 | -22 | c.96- others(37): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196596054 | GTGTATAT others(15): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007a0001c0001t0002g0033 | 2 | 136 | 0.0147 | -22 | c.95+ others(39): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | TogoVar | ||||||
KCNV2_chr9_2712510_2735037 | 2722040 | TTTATTTA others(15): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(240): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0014others(90): Show | 243 | 442 | 0.5498 | -22 | c.135 others(41): Show |
KCNV2 | ENSG00000168263.9 | transcript | ENST00000382082.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNV2_chr9_2712510_2735037 | 2722166 | TTAGAAGT others(15): Show |
T | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG02293.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0002a0002c0004t0004 | a0001c0002t0002g0038a0001c0002t0002g0046a0002c0004t0004g0069 | 5 | 442 | 0.0113 | -22 | c.135 others(41): Show |
KCNV2 | ENSG00000168263.9 | transcript | ENST00000382082.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNV2_chr9_2712510_2735037 | 2722296 | TATAAATT others(15): Show |
T | intron_variant | MODIFIER | HG02602.hp2 HG02622.hp2 HG02809.hp1 others(7): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0024a0001c0002t0002others(4): Show | a0001c0001t0001g0032a0001c0001t0024g0132a0001c0002t0002g0099others(4): Show | 10 | 442 | 0.0226 | -22 | c.135 others(41): Show |
KCNV2 | ENSG00000168263.9 | transcript | ENST00000382082.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNV2_chr9_2712510_2735037 | 2722521 | AAAGTTAT others(15): Show |
A | intron_variant | MODIFIER | HG02602.hp2 HG02622.hp2 HG03209.hp2 others(1): Show |
a0002a0008 | a0002c0006a0002c0008a0008c0029 | a0002c0006t0017a0002c0008t0006a0008c0029t0002 | a0002c0006t0017g0029a0002c0008t0006g0029a0008c0029t0002g0103 | 4 | 442 | 0.0091 | -22 | c.135 others(41): Show |
KCNV2 | ENSG00000168263.9 | transcript | ENST00000382082.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCTD14_chr11_78010715_78028276 | 78025110 | GTGTGTGT others(15): Show |
G | upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 468 | 0.0021 | -22 | c.-18 others(33): Show |
KCTD14 | ENSG00000151364.17 | transcript | ENST00000353172.6 | protein_coding | 1835 | chr11 | TogoVar | ||||||
KCTD14_chr11_78010715_78028276 | 78025114 | GTGTGTAT others(15): Show |
G | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0065 | 1 | 468 | 0.0021 | -22 | c.-18 others(33): Show |
KCTD14 | ENSG00000151364.17 | transcript | ENST00000353172.6 | protein_coding | 1839 | chr11 | TogoVar | ||||||
KCTD14_chr11_78010715_78028276 | 78025116 | GTGTATAT others(15): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02559.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(1): Show | a0001c0001t0001g0024a0002c0003t0001g0037a0002c0003t0001g0063others(3): Show | 9 | 468 | 0.0192 | -22 | c.-18 others(33): Show |
KCTD14 | ENSG00000151364.17 | transcript | ENST00000353172.6 | protein_coding | 1841 | chr11 | TogoVar | ||||||
KCTD14_chr11_78010715_78028276 | 78025118 | GTATATAT others(15): Show |
G | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 468 | 0.0021 | -22 | c.-18 others(33): Show |
KCTD14 | ENSG00000151364.17 | transcript | ENST00000353172.6 | protein_coding | 1843 | chr11 | TogoVar | ||||||
KCTD15_chr19_33791870_33820761 | 33797265 | TGTGTGTG others(15): Show |
T | intron_variant | MODIFIER | HG03139.hp2 HG03540.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085a0001c0001t0002g0086a0001c0001t0002g0087 | 3 | 370 | 0.0081 | -22 | c.-12 others(39): Show |
KCTD15 | ENSG00000153885.15 | transcript | ENST00000683859.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KCTD17_chr22_37046742_37068390 | 37067934 | TGTTCTCA others(15): Show |
T | downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 370 | 0.0027 | -22 | c.*53 others(33): Show |
KCTD17 | ENSG00000100379.18 | transcript | ENST00000403888.8 | protein_coding | 4545 | chr22 | TogoVar | ||||||
KCTD3_chr1_215562304_215626807 | 215591274 | CTCTCCTT others(15): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198a0001c0001t0001g0285 | 2 | 314 | 0.0064 | -22 | c.818 others(39): Show |
KCTD3 | ENSG00000136636.13 | transcript | ENST00000259154.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCTD8_chr4_44168903_44453809 | 44235525 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01891.hp1 HG02055.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0214a0001c0001t0001g0228a0001c0001t0001g0239others(5): Show | 8 | 294 | 0.0272 | -22 | c.962 others(41): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
KCTD8_chr4_44168903_44453809 | 44235560 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0270 | 1 | 294 | 0.0034 | -22 | c.962 others(41): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
KDELR1_chr19_48377575_48396551 | 48390559 | GAGACAGA others(15): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01433.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013a0001c0001t0003g0049 | 5 | 432 | 0.0116 | -22 | c.92- others(33): Show |
KDELR1 | ENSG00000105438.9 | transcript | ENST00000330720.7 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
KDELR2_chr7_6456089_6489152 | 6456466 | GTGTATAT others(15): Show |
G | downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0226 | 1 | 420 | 0.0024 | -22 | c.*66 others(33): Show |
KDELR2 | ENSG00000136240.10 | transcript | ENST00000258739.9 | protein_coding | 4622 | chr7 | TogoVar | ||||||
KDELR2_chr7_6456089_6489152 | 6464197 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG01070.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0201a0001c0001t0003g0012a0001c0001t0003g0031others(22): Show | 28 | 420 | 0.0667 | -22 | c.605 others(39): Show |
KDELR2 | ENSG00000136240.10 | transcript | ENST00000258739.9 | protein_coding | 4/4 | chr7 | TogoVar | ||||||
KDM1A_chr1_23014468_23088689 | 23017175 | TTTTATAT others(15): Show |
T | upstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 352 | 0.0028 | -22 | c.-24 others(33): Show |
KDM1A | ENSG00000004487.18 | transcript | ENST00000400181.9 | protein_coding | 2292 | chr1 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67247067 | ATATATTT others(15): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 220 | 0.0046 | -22 | c.196 others(39): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KDM3B_chr5_138347685_138442027 | 138419706 | CACACATA others(15): Show |
C | intron_variant | MODIFIER | HG01243.hp1 NA18906.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0013a0001c0003t0003g0307 | 2 | 356 | 0.0056 | -22 | c.371 others(39): Show |
KDM3B | ENSG00000120733.15 | transcript | ENST00000314358.10 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |