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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CT45A10_chrX_135876065_135898444 | 135882633 | A | T | splice_region_variant others(1): Show |
LOW | NA18906.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0101 | 1 | 258 | 0.0039 | 0 | c.419 others(5): Show |
CT45A10 | ENSG00000269586.8 | transcript | ENST00000682849.1 | protein_coding | 3/4 | chrX | TogoVar | ||||||
CT45A10_chrX_135876065_135898444 | 135882634 | A | G | splice_region_variant others(1): Show |
LOW | NA18906.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0101 | 1 | 258 | 0.0039 | 0 | c.419 others(5): Show |
CT45A10 | ENSG00000269586.8 | transcript | ENST00000682849.1 | protein_coding | 3/4 | chrX | TogoVar | ||||||
CT45A10_chrX_135876065_135898444 | 135882636 | A | C | splice_region_variant others(1): Show |
LOW | NA18906.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0101 | 1 | 258 | 0.0039 | 0 | c.419 others(5): Show |
CT45A10 | ENSG00000269586.8 | transcript | ENST00000682849.1 | protein_coding | 3/4 | chrX | TogoVar | ||||||
CT45A10_chrX_135876065_135898444 | 135883000 | C | T | splice_region_variant others(1): Show |
LOW | HG02083.hp1 HG02280.hp2 HG02976.hp2 others(2): Show |
a0003a0006 | a0003c0003a0006c0010 | a0003c0003t0001a0006c0010t0001 | a0003c0003t0001g0023a0003c0003t0001g0063a0003c0003t0001g0081others(1): Show | 5 | 258 | 0.0194 | 0 | c.418 others(5): Show |
CT45A10 | ENSG00000269586.8 | transcript | ENST00000682849.1 | protein_coding | 3/4 | chrX | TogoVar | ||||||
CT45A10_chrX_135876065_135898444 | 135883010 | C | T | missense_variant others(1): Show |
MODERATE | HG02083.hp1 HG02280.hp2 HG02976.hp2 others(2): Show |
a0003a0006 | a0003c0003a0006c0010 | a0003c0003t0001a0006c0010t0001 | a0003c0003t0001g0023a0003c0003t0001g0063a0003c0003t0001g0081others(1): Show | 5 | 258 | 0.0194 | 0 | c.416 others(3): Show |
p.Arg others(6): Show |
CT45A10 | ENSG00000269586.8 | transcript | ENST00000682849.1 | protein_coding | 3/5 | 522/869 | 416/570 | 139/189 | chrX | TogoVar | ||
CT45A1_chrX_135708639_135728228 | 135719108 | G | C | missense_variant others(1): Show |
MODERATE | NA19081.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0036 | 1 | 57 | 0.0175 | 0 | c.168 others(3): Show |
p.Lys others(5): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 2/5 | 226/823 | 168/570 | 56/189 | chrX | TogoVar | ||
CT45A1_chrX_135708639_135728228 | 135722968 | CT | C | splice_region_variant others(1): Show |
LOW | NA18940.hp1 | a0005 | a0005c0003 | a0005c0003t0002 | a0005c0003t0002g0022 | 1 | 57 | 0.0175 | -1 | c.513 others(6): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CT45A3_chrX_135755044_135773191 | 135764277 | C | G | missense_variant others(1): Show |
MODERATE | NA18978.hp1 | a0006 | a0006c0003 | a0006c0003t0001 | a0006c0003t0001g0081 | 1 | 160 | 0.0063 | 0 | c.168 others(3): Show |
p.Lys others(5): Show |
CT45A3 | ENSG00000269096.7 | transcript | ENST00000598716.3 | protein_coding | 2/5 | 258/968 | 168/570 | 56/189 | chrX | TogoVar | ||
CT45A5_chrX_135770852_135790503 | 135777699 | G | A | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(169): Show |
a0000a0001a0002others(2): Show | a0000c0006a0001c0001a0002c0002others(2): Show | a0000c0006t0030a0001c0001t0001a0001c0001t0002others(30): Show | a0000c0006t0030g0077a0001c0001t0001g0002a0001c0001t0001g0006others(116): Show | 172 | 177 | 0.9718 | 0 | c.513 others(5): Show |
CT45A5 | ENSG00000228836.9 | transcript | ENST00000698999.1 | protein_coding | 4/4 | chrX | TogoVar | ||||||
CT45A6_chrX_135789685_135807787 | 135794961 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00558.hp1 others(31): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0003a0004c0006others(2): Show | a0001c0001t0001a0002c0003t0001a0004c0006t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(26): Show | 34 | 36 | 0.9444 | 0 | c.513 others(5): Show |
CT45A6 | ENSG00000278289.5 | transcript | ENST00000620654.2 | protein_coding | 4/4 | chrX | TogoVar | ||||||
CT45A7_chrX_135824229_135842280 | 135829503 | G | A | splice_region_variant others(1): Show |
LOW | HG00544.hp2 HG01109.hp1 |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0004 | a0003c0003t0002g0016a0003c0003t0004g0002 | 2 | 19 | 0.1053 | 0 | c.513 others(5): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 4/4 | chrX | TogoVar | ||||||
CT45A7_chrX_135824229_135842280 | 135831189 | T | C | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00544.hp1 HG00738.hp1 others(14): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(14): Show | 17 | 19 | 0.8947 | 0 | c.418 others(5): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 3/4 | chrX | TogoVar | ||||||
CT45A8_chrX_135841497_135859538 | 135846752 | GA | G | splice_region_variant others(1): Show |
LOW | HG00438.hp2 NA18983.hp1 |
a0000a0004 | a0000c0005a0004c0002 | a0000c0005t0004a0004c0002t0005 | a0000c0005t0004g0006a0004c0002t0005g0004 | 2 | 8 | 0.2500 | -1 | c.513 others(6): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | TogoVar | ||||||
CT45A9_chrX_135858418_135876812 | 135864034 | G | A | splice_region_variant others(1): Show |
LOW | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
a0003a0004a0005 | a0003c0002a0004c0005a0005c0004 | a0003c0002t0003a0004c0005t0004a0005c0004t0003 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | 13 | 0.3077 | 0 | c.513 others(5): Show |
CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 4/4 | chrX | TogoVar | ||||||
CT45A9_chrX_135858418_135876812 | 135865717 | C | T | splice_region_variant others(1): Show |
LOW | HG00642.hp1 HG02040.hp1 HG02965.hp1 others(1): Show |
a0003a0004a0005 | a0003c0002a0004c0005a0005c0004 | a0003c0002t0003a0004c0005t0004a0005c0004t0003 | a0003c0002t0003g0010a0003c0002t0003g0011a0004c0005t0004g0009others(1): Show | 4 | 13 | 0.3077 | 0 | c.418 others(5): Show |
CT45A9 | ENSG00000270946.6 | transcript | ENST00000620704.5 | protein_coding | 3/4 | chrX | TogoVar | ||||||
CT47A3_chrX_120967746_120981068 | 120974185 | AG | A | splice_region_variant others(1): Show |
LOW | NA20300.hp2 | a0006 | a0006c0011 | a0006c0011t0004 | a0006c0011t0004g0020 | 1 | 201 | 0.0050 | -1 | c.743 others(6): Show |
CT47A3 | ENSG00000236126.3 | transcript | ENST00000441330.3 | protein_coding | 1/2 | chrX | TogoVar | ||||||
CT47A3_chrX_120967746_120981068 | 120975058 | CGTT | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 | a0012 | a0012c0017 | a0012c0017t0008 | a0012c0017t0008g0036 | 1 | 201 | 0.0050 | -3 | c.742 others(14): Show |
CT47A3 | ENSG00000236126.3 | transcript | ENST00000441330.3 | protein_coding | 1/2 | chrX | TogoVar | ||||||
CT47A5_chrX_120958026_120971348 | 120963172 | GA | G | splice_region_variant others(1): Show |
LOW | HG02004.hp2 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0028 | 1 | 130 | 0.0077 | -1 | c.*32 others(6): Show |
CT47A5 | ENSG00000237957.6 | transcript | ENST00000439466.3 | protein_coding | 2/2 | chrX | TogoVar | ||||||
CT47A7_chrX_120948282_120961600 | 120955594 | CGTT | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008 | 1 | 19 | 0.0526 | -3 | c.742 others(14): Show |
CT47A7 | ENSG00000228517.3 | transcript | ENST00000434883.3 | protein_coding | 1/2 | chrX | TogoVar | ||||||
CTAG1A_chrX_154580133_154591816 | 154586141 | G | GC | splice_region_variant others(1): Show |
LOW | NA18985.hp1 NA19086.hp1 |
a0002a0011 | a0002c0005a0011c0008 | a0002c0005t0001a0011c0008t0001 | a0002c0005t0001g0026a0011c0008t0001g0024 | 2 | 293 | 0.0068 | 1 | c.270 others(6): Show |
CTAG1A | ENSG00000268651.4 | transcript | ENST00000599837.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CTAG1A_chrX_154580133_154591816 | 154586814 | C | T | splice_region_variant | LOW | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 293 | 0.0034 | 0 | c.*15 others(4): Show |
CTAG1A | ENSG00000268651.4 | transcript | ENST00000599837.3 | protein_coding | 3/3 | chrX | TogoVar | ||||||
CTBP1_chr4_1206445_1254130 | 1228351 | G | A | splice_region_variant others(1): Show |
LOW | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 422 | 0.0024 | 0 | c.163 others(5): Show |
CTBP1 | ENSG00000159692.18 | transcript | ENST00000382952.8 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
CTBP1_chr4_1206445_1254130 | 1248909 | G | A | splice_region_variant others(1): Show |
LOW | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0351 | 1 | 422 | 0.0024 | 0 | c.-18 others(6): Show |
CTBP1 | ENSG00000159692.18 | transcript | ENST00000382952.8 | protein_coding | 1/9 | chr4 | TogoVar | ||||||
CTBP2_chr10_124979317_125033071 | 124993851 | G | A | splice_region_variant others(1): Show |
LOW | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 380 | 0.0026 | 0 | c.253 others(6): Show |
CTBP2 | ENSG00000175029.17 | transcript | ENST00000309035.11 | protein_coding | 6/8 | chr10 | TogoVar | ||||||
CTBP2_chr10_124979317_125033071 | 125003497 | C | A | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG01070.hp2 HG01123.hp1 others(12): Show |
a0003a0018 | a0003c0004a0018c0028 | a0003c0004t0006a0003c0004t0033a0003c0004t0049others(8): Show | a0003c0004t0006g0239a0003c0004t0033g0228a0003c0004t0033g0242others(12): Show | 15 | 380 | 0.0395 | 0 | c.167 others(6): Show |
CTBP2 | ENSG00000175029.17 | transcript | ENST00000309035.11 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CTC1_chr17_8219815_8253056 | 8228896 | T | C | splice_region_variant others(1): Show |
LOW | HG00673.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0260 | 1 | 402 | 0.0025 | 0 | c.322 others(6): Show |
CTC1 | ENSG00000178971.17 | transcript | ENST00000651323.1 | protein_coding | 20/22 | chr17 | TogoVar | ||||||
CTC1_chr17_8219815_8253056 | 8229445 | T | C | missense_variant others(1): Show |
MODERATE | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(219): Show |
a0001a0003a0005others(11): Show | a0001c0002a0001c0003a0001c0021others(17): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(38): Show | a0001c0002t0001g0027a0001c0002t0001g0028a0001c0002t0001g0029others(194): Show | 222 | 402 | 0.5522 | 0 | c.301 others(4): Show |
p.Ile others(7): Show |
CTC1 | ENSG00000178971.17 | transcript | ENST00000651323.1 | protein_coding | 19/23 | 3033/7039 | 3013/3654 | 1005/1217 | chr17 | TogoVar | ||
CTC1_chr17_8219815_8253056 | 8231467 | T | C | splice_region_variant others(1): Show |
LOW | HG00639.hp1 | a0001 | a0001c0022 | a0001c0022t0003 | a0001c0022t0003g0233 | 1 | 402 | 0.0025 | 0 | c.247 others(4): Show |
p.Thr others(6): Show |
CTC1 | ENSG00000178971.17 | transcript | ENST00000651323.1 | protein_coding | 15/23 | 2498/7039 | 2478/3654 | 826/1217 | chr17 | TogoVar | ||
CTDP1_chr18_79674803_79759503 | 79695221 | G | A | splice_region_variant others(1): Show |
LOW | NA18947.hp1 NA18980.hp2 |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0110a0003c0005t0002g0111 | 2 | 378 | 0.0053 | 0 | c.315 others(5): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79695227 | C | T | missense_variant others(1): Show |
MODERATE | HG02109.hp2 HG02258.hp1 HG02647.hp1 others(3): Show |
a0005 | a0005c0011a0005c0015a0005c0024 | a0005c0011t0005a0005c0015t0005a0005c0024t0001 | a0005c0011t0005g0367a0005c0011t0005g0368a0005c0011t0005g0370others(3): Show | 6 | 378 | 0.0159 | 0 | c.317 others(3): Show |
p.Ala others(6): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 2/13 | 462/3744 | 317/2886 | 106/961 | chr18 | TogoVar | ||
CTDP1_chr18_79674803_79759503 | 79696077 | C | T | splice_region_variant others(1): Show |
LOW | HG02970.hp2 HG02976.hp1 HG03579.hp1 |
a0001 | a0001c0014a0001c0036 | a0001c0014t0001a0001c0036t0001 | a0001c0014t0001g0011a0001c0014t0001g0012a0001c0036t0001g0013 | 3 | 378 | 0.0079 | 0 | c.492 others(5): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79696078 | G | T | splice_region_variant others(1): Show |
LOW | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0207 | 1 | 378 | 0.0027 | 0 | c.492 others(5): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79717536 | C | T | splice_region_variant others(1): Show |
LOW | HG01261.hp2 HG01496.hp2 HG01993.hp1 |
a0003 | a0003c0012 | a0003c0012t0002 | a0003c0012t0002g0105a0003c0012t0002g0106a0003c0012t0002g0107 | 3 | 378 | 0.0079 | 0 | c.207 others(4): Show |
p.Gly others(6): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 9/13 | 2215/3744 | 2070/2886 | 690/961 | chr18 | TogoVar | ||
CTDSP1_chr2_218394868_218410941 | 218402341 | C | T | splice_region_variant others(1): Show |
LOW | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 424 | 0.0024 | 0 | c.322 others(5): Show |
CTDSP1 | ENSG00000144579.9 | transcript | ENST00000273062.7 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
CTDSP1_chr2_218394868_218410941 | 218403234 | C | T | splice_region_variant others(1): Show |
LOW | HG03453.hp2 | a0001 | a0001c0007 | a0001c0007t0013 | a0001c0007t0013g0035 | 1 | 424 | 0.0024 | 0 | c.474 others(3): Show |
p.Tyr others(6): Show |
CTDSP1 | ENSG00000144579.9 | transcript | ENST00000273062.7 | protein_coding | 6/7 | 697/2525 | 474/786 | 158/261 | chr2 | TogoVar | ||
CTDSP1_chr2_218394868_218410941 | 218405939 | C | G | splice_region_variant | LOW | NA18959.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0015 | 1 | 424 | 0.0024 | 0 | c.*15 others(5): Show |
CTDSP1 | ENSG00000144579.9 | transcript | ENST00000273062.7 | protein_coding | 7/7 | chr2 | TogoVar | ||||||
CTDSPL2_chr15_44422629_44534038 | 44496373 | T | C | splice_region_variant others(1): Show |
LOW | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 234 | 0.0043 | 0 | c.692 others(5): Show |
CTDSPL2 | ENSG00000137770.14 | transcript | ENST00000260327.9 | protein_coding | 5/12 | chr15 | TogoVar | ||||||
CTDSPL2_chr15_44422629_44534038 | 44521413 | G | A | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG01891.hp2 HG02040.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0012a0001c0001t0014others(4): Show | a0001c0001t0003g0020a0001c0001t0003g0021a0001c0001t0003g0022others(26): Show | 29 | 234 | 0.1239 | 0 | c.133 others(6): Show |
CTDSPL2 | ENSG00000137770.14 | transcript | ENST00000260327.9 | protein_coding | 12/12 | chr15 | TogoVar | ||||||
CTHRC1_chr8_103366538_103387989 | 103382062 | AAGGGCTT others(5711): Show |
A | exon_loss_variant others(5): Show |
HIGH | HG04184.hp2 | a0000 | a0000c0004 | a0000c0004t0004 | a0000c0004t0004g0070 | 1 | 408 | 0.0025 | -5718 | c.590 others(13): Show |
CTHRC1 | ENSG00000164932.13 | transcript | ENST00000330295.10 | protein_coding | 4/4 | chr8 | TogoVar | ||||||
CTH_chr1_70406268_70444851 | 70418039 | G | A | splice_region_variant others(1): Show |
LOW | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 424 | 0.0024 | 0 | c.346 others(5): Show |
CTH | ENSG00000116761.12 | transcript | ENST00000370938.8 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48619753 | C | T | splice_region_variant others(1): Show |
LOW | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 144 | 0.0069 | 0 | c.180 others(5): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48663829 | A | G | splice_region_variant others(1): Show |
LOW | HG02809.hp1 HG02809.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0018a0001c0001t0019 | a0001c0001t0012g0090a0001c0001t0018g0065a0001c0001t0019g0132 | 3 | 144 | 0.0208 | 0 | c.326 others(5): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 4/11 | chr18 | TogoVar | ||||||
CTNNA1_chr5_138748425_138940034 | 138812304 | TAC | T | splice_region_variant others(1): Show |
LOW | HG02451.hp2 HG03486.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010 | 3 | 180 | 0.0167 | -2 | c.588 others(13): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CTNNA1_chr5_138748425_138940034 | 138886300 | G | C | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(36): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0005a0001c0003t0002 | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0035others(36): Show | 39 | 180 | 0.2167 | 0 | c.114 others(6): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 8/17 | chr5 | TogoVar | ||||||
CTNNA1_chr5_138748425_138940034 | 138930475 | G | A | splice_region_variant others(1): Show |
LOW | NA20805.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0107 | 1 | 180 | 0.0056 | 0 | c.201 others(4): Show |
p.Ala others(6): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 15/18 | 2101/3754 | 2013/2721 | 671/906 | chr5 | TogoVar | ||
CTNNA2_chr2_79508051_80653780 | 80608180 | A | G | splice_region_variant others(1): Show |
LOW | HG02572.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0040 | 1 | 68 | 0.0147 | 0 | c.229 others(6): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 16/18 | chr2 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66069309 | T | G | splice_region_variant others(1): Show |
LOW | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0029a0001c0005t0010g0034 | 2 | 46 | 0.0435 | 0 | c.215 others(4): Show |
p.Arg others(6): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 15/18 | 2359/10696 | 2158/2688 | 720/895 | chr10 | TogoVar | ||
CTNNA3_chr10_65907523_67701195 | 67180317 | G | A | splice_region_variant others(1): Show |
LOW | HG02647.hp1 HG03195.hp1 |
a0001 | a0001c0006a0001c0007 | a0001c0006t0001a0001c0007t0015 | a0001c0006t0001g0001a0001c0007t0015g0016 | 2 | 46 | 0.0435 | 0 | c.104 others(4): Show |
p.Asn others(6): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/18 | 1248/10696 | 1047/2688 | 349/895 | chr10 | TogoVar | ||
CTNNAL1_chr9_108937577_109018499 | 108955783 | T | C | splice_region_variant others(1): Show |
LOW | HG02132.hp1 HG02809.hp2 HG02818.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0023a0001c0001t0001g0152others(17): Show | 24 | 420 | 0.0571 | 0 | c.162 others(6): Show |
CTNNAL1 | ENSG00000119326.15 | transcript | ENST00000325551.9 | protein_coding | 12/18 | chr9 | TogoVar | ||||||
CTNNAL1_chr9_108937577_109018499 | 108972840 | ATG | A | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG01884.hp1 HG02451.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0011a0001c0001t0001g0031a0001c0001t0001g0298others(10): Show | 16 | 420 | 0.0381 | -2 | c.118 others(15): Show |
CTNNAL1 | ENSG00000119326.15 | transcript | ENST00000325551.9 | protein_coding | 8/18 | chr9 | TogoVar |