view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNJ6_chr21_37602373_37921457 | 37655218 | TGTGTGTG others(23): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00609.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0034a0001c0001t0041others(9): Show | a0001c0001t0033g0085 a0001c0001t0034g0160 a0001c0001t0041g0179 others(9): Show |
12 | 189 | 0.0635 | -30 | c.947 others(49): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37756986 | CAAGTGAG others(23): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0140 | 1 | 119 | 0.0084 | -30 | c.26- others(47): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37757301 | ATGTTTCC others(23): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0140 | 1 | 196 | 0.0051 | -30 | c.26- others(47): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
KCNK18_chr10_117192489_117215299 | 117194246 | GACACGCT others(23): Show |
G | upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 428 | 0.0023 | -30 | c.-32 others(41): Show |
KCNK18 | ENSG00000186795.1 | transcript | ENST00000334549.1 | protein_coding | 3242 | chr10 | TogoVar | |||||||
KCNK6_chr19_38314845_38337076 | 38328950 | GAAAGAAA others(23): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03130.hp1 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0021 | 2 | 396 | 0.0051 | -30 | c.*15 others(41): Show |
KCNK6 | ENSG00000099337.5 | transcript | ENST00000263372.5 | protein_coding | 3/3 | 1581 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KCNK9_chr8_139612121_139708123 | 139687575 | TATATGTA others(23): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01884.hp2 HG01934.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0154 others(11): Show |
14 | 290 | 0.0483 | -30 | c.283 others(49): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77382982 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp2 HG02965.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0027 a0001c0001t0002g0069 a0001c0001t0003g0090 others(3): Show |
6 | 105 | 0.0571 | -30 | c.540 others(49): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 2/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77573632 | GGAATGGA others(23): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0066 a0001c0001t0003g0026 a0001c0002t0002g0056 others(1): Show |
4 | 82 | 0.0488 | -30 | c.378 others(49): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77573637 | GGAATGGA others(23): Show |
G | intron_variant | MODIFIER | HG01243.hp1 NA18747.hp2 NA19003.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0004 | a0001c0001t0001g0022 a0001c0001t0002g0078 a0001c0002t0004g0106 |
3 | 73 | 0.0411 | -30 | c.378 others(49): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77573642 | GGAATAGA others(23): Show |
G | intron_variant | MODIFIER | HG01258.hp2 HG02738.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0012 | a0001c0002t0002g0051 a0001c0002t0012g0050 |
2 | 77 | 0.0260 | -30 | c.378 others(49): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178568824 | AGATAGAT others(23): Show |
A | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 228 | 0.0044 | -30 | c.-68 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178757309 | CATCCAAG others(23): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 215 | 0.0047 | -30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178757364 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0190 | 1 | 89 | 0.0112 | -30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178757503 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG02559.hp2 NA18998.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0108 a0001c0002t0001g0070 |
2 | 220 | 0.0091 | -30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759316 | GATATATA others(23): Show |
G | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 156 | 0.0064 | -30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759994 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01258.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0062 |
3 | 204 | 0.0147 | -30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178760062 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 a0001c0001t0002g0178 |
2 | 232 | 0.0086 | -30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178760094 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0128 | 1 | 228 | 0.0044 | -30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178760190 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 231 | 0.0043 | -30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178760199 | TATATATC others(23): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG00673.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0060 a0001c0001t0002g0150 a0001c0001t0002g0183 others(34): Show |
37 | 183 | 0.2022 | -30 | c.-67 others(49): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNN1_chr19_17962107_18005085 | 18004531 | GCCACCGC others(23): Show |
G | downstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0296 | 1 | 376 | 0.0027 | -30 | c.*61 others(41): Show |
KCNN1 | ENSG00000105642.16 | transcript | ENST00000684775.1 | protein_coding | 4447 | chr19 | TogoVar | |||||||
KCNN2_chr5_114357070_114501496 | 114379541 | TTATAGAA others(23): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG01515.hp1 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0019t0001 | a0001c0001t0001g0230 a0001c0019t0001g0234 |
2 | 248 | 0.0081 | -30 | c.121 others(51): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154702700 | GATATATA others(23): Show |
G | 3_prime_UTR_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0009 | a0002c0009t0105 | a0002c0009t0105g0131 | 1 | 13 | 0.0769 | -30 | c.*52 others(41): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 8/8 | 5246 | chr1 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2444966 | CGGGCTGG others(23): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004 | 1 | 206 | 0.0049 | -30 | c.-13 others(39): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 41 | chr11 | TogoVar | |||||||
KCNQ1_chr11_2440008_2854105 | 2584649 | TTGTGTGT others(23): Show |
T | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 206 | 0.0049 | -30 | c.103 others(47): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 72779821 | CTGTGTGT others(23): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0012 | a0001c0012t0014 | a0001c0012t0014g0009 | 1 | 2 | 0.5000 | -30 | c.398 others(51): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 73124936 | GATATATA others(23): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0012 | a0001c0012t0014 | a0001c0012t0014g0009 | 1 | 72 | 0.0139 | -30 | c.124 others(47): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 73197580 | TACACACA others(23): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0022 | 1 | 3 | 0.3333 | -30 | c.*21 others(41): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 14/14 | 2199 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCNRG_chr13_50010444_50025922 | 50015092 | AAAATATA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG01169.hp1 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 348 | 0.0057 | -30 | c.-40 others(39): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 351 | chr13 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196596054 | GTGTATAT others(23): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0003 a0001c0001t0001g0090 a0001c0001t0001g0127 others(3): Show |
6 | 27 | 0.2222 | -30 | c.95+ others(47): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 1/27 | chr1 | TogoVar | |||||||
KCTD14_chr11_78010715_78028276 | 78025112 | GTGTGTGT others(23): Show |
G | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02630.hp2 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0145 a0001c0001t0001g0147 others(1): Show |
6 | 462 | 0.0130 | -30 | c.-18 others(41): Show |
KCTD14 | ENSG00000151364.17 | transcript | ENST00000353172.6 | protein_coding | 1837 | chr11 | TogoVar | |||||||
KCTD8_chr4_44168903_44453809 | 44235547 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02486.hp1 others(10): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0002a0004c0007t0002 | a0001c0001t0001g0266 a0001c0001t0002g0133 a0001c0001t0002g0137 others(10): Show |
13 | 291 | 0.0447 | -30 | c.962 others(49): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
KDELR2_chr7_6456089_6489152 | 6456466 | GTGTATAT others(23): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 a0001c0001t0003g0179 |
3 | 393 | 0.0076 | -30 | c.*66 others(41): Show |
KDELR2 | ENSG00000136240.10 | transcript | ENST00000258739.9 | protein_coding | 4622 | chr7 | TogoVar | |||||||
KDM1A_chr1_23014468_23088689 | 23017175 | TTTTATAT others(23): Show |
T | upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 218 | 0.0046 | -30 | c.-24 others(41): Show |
KDM1A | ENSG00000004487.18 | transcript | ENST00000400181.9 | protein_coding | 2292 | chr1 | TogoVar | |||||||
KDM4B_chr19_4964113_5158598 | 5056865 | AGTCCTGG others(23): Show |
A | intron_variant | MODIFIER | HG00438.hp1 NA18995.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0252 |
3 | 268 | 0.0112 | -30 | c.626 others(47): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 6/22 | chr19 | TogoVar | |||||||
KDM5A_chr12_275057_394320 | 314499 | GAAACTTT others(23): Show |
G | intron_variant | MODIFIER | HG02135.hp1 HG02155.hp1 NA18941.hp2 others(9): Show |
a0001 | a0001c0003 | a0001c0003t0011a0001c0003t0025a0001c0003t0033 | a0001c0003t0011g0223 a0001c0003t0011g0224 a0001c0003t0011g0225 others(9): Show |
12 | 348 | 0.0345 | -30 | c.289 others(49): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 19/27 | chr12 | TogoVar | |||||||
KDM7A_chr7_140079746_140181983 | 140100660 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01516.hp2 HG01884.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0020 a0001c0001t0002g0148 others(5): Show |
10 | 147 | 0.0680 | -30 | c.163 others(47): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 12/19 | chr7 | TogoVar | |||||||
KDM7A_chr7_140079746_140181983 | 140100679 | TACATATA others(23): Show |
T | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 | 1 | 321 | 0.0031 | -30 | c.163 others(47): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 12/19 | chr7 | TogoVar | |||||||
KDSR_chr18_63322726_63372206 | 63337092 | CTTTATAT others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(141): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0001t0020others(15): Show | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0012 others(105): Show |
144 | 372 | 0.3871 | -30 | c.777 others(47): Show |
KDSR | ENSG00000119537.18 | transcript | ENST00000645214.2 | protein_coding | 8/9 | chr18 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61848533 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0183 a0001c0001t0006g0244 |
2 | 226 | 0.0088 | -30 | c.810 others(49): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61954846 | ATATGCAT others(23): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0003 | a0001c0001t0004g0182 a0001c0003t0003g0035 |
2 | 242 | 0.0083 | -30 | c.483 others(49): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61955516 | GTATGTAT others(23): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0184 | 1 | 241 | 0.0041 | -30 | c.483 others(49): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61955546 | ATATGTAT others(23): Show |
A | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0007 | a0001c0002t0004g0191 a0001c0002t0004g0192 a0001c0002t0007g0237 others(1): Show |
4 | 158 | 0.0253 | -30 | c.483 others(49): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61955680 | GTATGTAT others(23): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(76): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0029 others(76): Show |
79 | 242 | 0.3264 | -30 | c.483 others(49): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 62169147 | GTGTATAT others(23): Show |
G | intron_variant | MODIFIER | HG03927.hp1 NA18612.hp1 NA19003.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0063 a0001c0001t0002g0093 a0001c0001t0002g0094 others(1): Show |
4 | 203 | 0.0197 | -30 | c.219 others(47): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 62240672 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 70 | 0.0143 | -30 | c.91+ others(47): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
KHDRBS3_chr8_135452456_135652610 | 135617230 | CTTTTATT others(23): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01255.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 others(22): Show |
26 | 40 | 0.6500 | -30 | c.890 others(49): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KIAA0232_chr4_6777727_6889164 | 6875872 | CAGCAGTT others(23): Show |
C | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0132 | 1 | 360 | 0.0028 | -30 | c.391 others(47): Show |
KIAA0232 | ENSG00000170871.12 | transcript | ENST00000307659.6 | protein_coding | 8/9 | chr4 | TogoVar | |||||||
KIAA1217_chr10_24204138_24552843 | 24211565 | GTATTGTA others(23): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0068 | a0003c0068t0008 | a0003c0068t0008g0081 | 1 | 104 | 0.0096 | -30 | c.70+ others(45): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIAA1217_chr10_24204138_24552843 | 24538598 | AAGGAAGG others(23): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp2 HG01358.hp1 others(2): Show |
a0001a0002a0004 | a0001c0013a0002c0007a0004c0028 | a0001c0013t0006a0002c0007t0001a0004c0028t0006 | a0001c0013t0006g0183 a0002c0007t0001g0156 a0002c0007t0001g0222 others(2): Show |
5 | 233 | 0.0215 | -30 | c.353 others(49): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |