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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CUBN_chr10_16818966_17134811 | 16906413 | A | G | splice_region_variant others(1): Show |
LOW | HG01884.hp1 | a0104 | a0104c0157 | a0104c0157t0001 | a0104c0157t0001g0186 | 1 | 192 | 0.0052 | 0 | c.770 others(6): Show |
CUBN | ENSG00000107611.16 | transcript | ENST00000377833.10 | protein_coding | 49/66 | chr10 | TogoVar | ||||||
CUBN_chr10_16818966_17134811 | 16933079 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(32): Show |
a0001a0002a0003others(17): Show | a0001c0004a0001c0053a0001c0057others(28): Show | a0001c0004t0002a0001c0053t0001a0001c0057t0002others(31): Show | a0001c0004t0002g0028a0001c0004t0002g0137a0001c0053t0001g0083others(32): Show | 35 | 192 | 0.1823 | 0 | c.612 others(6): Show |
CUBN | ENSG00000107611.16 | transcript | ENST00000377833.10 | protein_coding | 40/66 | chr10 | TogoVar | ||||||
CUBN_chr10_16818966_17134811 | 16937594 | G | A | missense_variant others(1): Show |
MODERATE | HG01928.hp2 HG02300.hp1 |
a0018 | a0018c0010 | a0018c0010t0002a0018c0010t0003 | a0018c0010t0002g0133a0018c0010t0003g0106 | 2 | 192 | 0.0104 | 0 | c.592 others(4): Show |
p.Pro others(7): Show |
CUBN | ENSG00000107611.16 | transcript | ENST00000377833.10 | protein_coding | 39/67 | 5970/11927 | 5924/10872 | 1975/3623 | chr10 | TogoVar | ||
CUBN_chr10_16818966_17134811 | 16940245 | G | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00438.hp2 others(50): Show |
a0001a0002a0003others(28): Show | a0001c0041a0002c0143a0002c0149others(44): Show | a0001c0041t0001a0002c0143t0003a0002c0149t0001others(47): Show | a0001c0041t0001g0033a0002c0143t0003g0114a0002c0149t0001g0060others(50): Show | 53 | 192 | 0.2760 | 0 | c.534 others(6): Show |
CUBN | ENSG00000107611.16 | transcript | ENST00000377833.10 | protein_coding | 36/66 | chr10 | TogoVar | ||||||
CUBN_chr10_16818966_17134811 | 17019834 | G | A | splice_region_variant others(1): Show |
LOW | HG02486.hp2 | a0022 | a0022c0084 | a0022c0084t0001 | a0022c0084t0001g0025 | 1 | 192 | 0.0052 | 0 | c.416 others(4): Show |
p.Tyr others(7): Show |
CUBN | ENSG00000107611.16 | transcript | ENST00000377833.10 | protein_coding | 28/67 | 4213/11927 | 4167/10872 | 1389/3623 | chr10 | TogoVar | ||
CUBN_chr10_16818966_17134811 | 17068286 | G | C | splice_region_variant others(1): Show |
LOW | HG03540.hp1 | a0072 | a0072c0025 | a0072c0025t0001 | a0072c0025t0001g0101 | 1 | 192 | 0.0052 | 0 | c.279 others(6): Show |
CUBN | ENSG00000107611.16 | transcript | ENST00000377833.10 | protein_coding | 20/66 | chr10 | TogoVar | ||||||
CUBN_chr10_16818966_17134811 | 17068599 | T | G | splice_region_variant others(1): Show |
LOW | HG00621.hp2 HG02132.hp1 HG02165.hp2 others(2): Show |
a0001a0023a0083others(1): Show | a0001c0057a0023c0064a0023c0065others(2): Show | a0001c0057t0002a0023c0064t0001a0023c0065t0001others(2): Show | a0001c0057t0002g0150a0023c0064t0001g0158a0023c0065t0001g0157others(2): Show | 5 | 192 | 0.0260 | 0 | c.279 others(6): Show |
CUBN | ENSG00000107611.16 | transcript | ENST00000377833.10 | protein_coding | 20/66 | chr10 | TogoVar | ||||||
CUEDC1_chr17_57856243_57960412 | 57869201 | G | T | splice_region_variant others(1): Show |
LOW | HG03492.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0010a0001c0001t0016g0061 | 2 | 212 | 0.0094 | 0 | c.869 others(5): Show |
CUEDC1 | ENSG00000180891.13 | transcript | ENST00000577830.6 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
CUEDC2_chr10_102418249_102437574 | 102424177 | G | T | missense_variant others(1): Show |
MODERATE | NA18974.hp2 NA19059.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0027 | 2 | 390 | 0.0051 | 0 | c.413 others(3): Show |
p.Ala others(6): Show |
CUEDC2 | ENSG00000107874.11 | transcript | ENST00000369937.5 | protein_coding | 6/9 | 472/1100 | 413/864 | 138/287 | chr10 | TogoVar | ||
CUEDC2_chr10_102418249_102437574 | 102424181 | A | C | splice_region_variant others(1): Show |
LOW | NA18974.hp2 NA19059.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0027 | 2 | 390 | 0.0051 | 0 | c.412 others(5): Show |
CUEDC2 | ENSG00000107874.11 | transcript | ENST00000369937.5 | protein_coding | 5/8 | chr10 | TogoVar | ||||||
CUEDC2_chr10_102418249_102437574 | 102424186 | T | C | splice_region_variant others(1): Show |
LOW | NA18974.hp2 NA19059.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0027 | 2 | 390 | 0.0051 | 0 | c.412 others(5): Show |
CUEDC2 | ENSG00000107874.11 | transcript | ENST00000369937.5 | protein_coding | 5/8 | chr10 | TogoVar | ||||||
CUEDC2_chr10_102418249_102437574 | 102425196 | C | G | splice_region_variant | LOW | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(102): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0002a0002c0003t0002 | a0001c0001t0002g0002a0001c0001t0002g0010a0001c0001t0002g0018others(19): Show | 105 | 390 | 0.2692 | 0 | c.-8G others(2): Show |
CUEDC2 | ENSG00000107874.11 | transcript | ENST00000369937.5 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
CUL1_chr7_148693903_148806110 | 148783898 | C | T | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(153): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(151): Show | 156 | 338 | 0.4615 | 0 | c.119 others(6): Show |
CUL1 | ENSG00000055130.18 | transcript | ENST00000325222.9 | protein_coding | 10/21 | chr7 | TogoVar | ||||||
CUL1_chr7_148693903_148806110 | 148790303 | T | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(222): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(220): Show | 225 | 338 | 0.6657 | 0 | c.167 others(6): Show |
CUL1 | ENSG00000055130.18 | transcript | ENST00000325222.9 | protein_coding | 15/21 | chr7 | TogoVar | ||||||
CUL1_chr7_148693903_148806110 | 148792728 | G | A | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00597.hp1 HG00673.hp2 others(11): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0062a0001c0002t0001g0203a0001c0002t0001g0255others(11): Show | 14 | 338 | 0.0414 | 0 | c.180 others(4): Show |
p.Ala others(6): Show |
CUL1 | ENSG00000055130.18 | transcript | ENST00000325222.9 | protein_coding | 17/22 | 2097/3147 | 1809/2331 | 603/776 | chr7 | TogoVar | ||
CUL2_chr10_35003551_35095341 | 35025202 | T | TA | splice_region_variant others(1): Show |
LOW | HG00544.hp2 HG00609.hp1 HG00609.hp2 others(47): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(11): Show | a0001c0001t0001g0007a0001c0001t0001g0050a0001c0001t0001g0065others(47): Show | 50 | 300 | 0.1667 | 1 | c.161 others(7): Show |
CUL2 | ENSG00000108094.17 | transcript | ENST00000374749.8 | protein_coding | 16/20 | chr10 | TogoVar | ||||||
CUL2_chr10_35003551_35095341 | 35025202 | TA | T | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00323.hp2 HG00423.hp2 others(121): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(13): Show | a0001c0001t0003g0022a0001c0001t0007g0218a0001c0001t0007g0219others(116): Show | 124 | 300 | 0.4133 | -1 | c.161 others(7): Show |
CUL2 | ENSG00000108094.17 | transcript | ENST00000374749.8 | protein_coding | 16/20 | chr10 | TogoVar | ||||||
CUL2_chr10_35003551_35095341 | 35049676 | C | G | splice_region_variant others(1): Show |
LOW | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0172 | 1 | 300 | 0.0033 | 0 | c.506 others(5): Show |
CUL2 | ENSG00000108094.17 | transcript | ENST00000374749.8 | protein_coding | 6/20 | chr10 | TogoVar | ||||||
CUL2_chr10_35003551_35095341 | 35049771 | G | A | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00323.hp2 HG00423.hp2 others(132): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0009a0001c0001t0011a0001c0001t0012others(15): Show | a0001c0001t0009g0225a0001c0001t0011g0235a0001c0001t0011g0236others(127): Show | 135 | 300 | 0.4500 | 0 | c.424 others(5): Show |
CUL2 | ENSG00000108094.17 | transcript | ENST00000374749.8 | protein_coding | 5/20 | chr10 | TogoVar | ||||||
CUL3_chr2_224465150_224590363 | 224513520 | T | A | splice_region_variant others(1): Show |
LOW | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 382 | 0.0026 | 0 | c.654 others(5): Show |
CUL3 | ENSG00000036257.14 | transcript | ENST00000264414.9 | protein_coding | 5/15 | chr2 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113253077 | A | G | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(131): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(11): Show | a0001c0001t0001g0110a0001c0001t0001g0123a0001c0001t0001g0124others(126): Show | 134 | 396 | 0.3384 | 0 | c.163 others(6): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 15/19 | chr13 | TogoVar | ||||||
CUL5_chr11_108003898_108112761 | 108009375 | A | G | splice_region_variant others(1): Show |
LOW | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0302 | 1 | 312 | 0.0032 | 0 | c.24+ others(4): Show |
CUL5 | ENSG00000166266.14 | transcript | ENST00000393094.7 | protein_coding | 1/18 | chr11 | TogoVar | ||||||
CUL5_chr11_108003898_108112761 | 108078178 | G | A | splice_region_variant others(1): Show |
LOW | NA18970.hp2 NA18981.hp2 |
a0001 | a0001c0005 | a0001c0005t0018 | a0001c0005t0018g0066a0001c0005t0018g0067 | 2 | 312 | 0.0064 | 0 | c.111 others(4): Show |
p.Ala others(6): Show |
CUL5 | ENSG00000166266.14 | transcript | ENST00000393094.7 | protein_coding | 11/19 | 1567/6171 | 1116/2343 | 372/780 | chr11 | TogoVar | ||
CUL7_chr6_43032617_43058851 | 43038690 | C | T | splice_region_variant others(1): Show |
LOW | HG02735.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0071 | 1 | 302 | 0.0033 | 0 | c.444 others(4): Show |
p.Ala others(7): Show |
CUL7 | ENSG00000044090.13 | transcript | ENST00000265348.9 | protein_coding | 24/26 | 4681/5406 | 4443/5097 | 1481/1698 | chr6 | TogoVar | ||
CUL7_chr6_43032617_43058851 | 43049409 | T | C | missense_variant others(1): Show |
MODERATE | NA18994.hp2 | a0019 | a0019c0028 | a0019c0028t0001 | a0019c0028t0001g0096 | 1 | 302 | 0.0033 | 0 | c.182 others(4): Show |
p.Glu others(6): Show |
CUL7 | ENSG00000044090.13 | transcript | ENST00000265348.9 | protein_coding | 7/26 | 2061/5406 | 1823/5097 | 608/1698 | chr6 | TogoVar | ||
CUL9_chr6_43177196_43229587 | 43193002 | G | A | missense_variant others(1): Show |
MODERATE | NA18961.hp2 | a0010 | a0010c0043 | a0010c0043t0001 | a0010c0043t0001g0063 | 1 | 276 | 0.0036 | 0 | c.218 others(4): Show |
p.Glu others(6): Show |
CUL9 | ENSG00000112659.14 | transcript | ENST00000252050.9 | protein_coding | 9/41 | 2245/7759 | 2182/7554 | 728/2517 | chr6 | TogoVar | ||
CUL9_chr6_43177196_43229587 | 43193003 | A | T | missense_variant others(1): Show |
MODERATE | NA18961.hp2 | a0010 | a0010c0043 | a0010c0043t0001 | a0010c0043t0001g0063 | 1 | 276 | 0.0036 | 0 | c.218 others(4): Show |
p.Glu others(6): Show |
CUL9 | ENSG00000112659.14 | transcript | ENST00000252050.9 | protein_coding | 9/41 | 2246/7759 | 2183/7554 | 728/2517 | chr6 | TogoVar | ||
CUL9_chr6_43177196_43229587 | 43199258 | C | T | splice_region_variant others(1): Show |
LOW | HG03098.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0081 | 1 | 276 | 0.0036 | 0 | c.305 others(6): Show |
CUL9 | ENSG00000112659.14 | transcript | ENST00000252050.9 | protein_coding | 12/40 | chr6 | TogoVar | ||||||
CUL9_chr6_43177196_43229587 | 43222397 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00323.hp1 HG01884.hp1 others(2): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0143a0002c0001t0001g0154a0002c0001t0001g0171others(2): Show | 5 | 276 | 0.0181 | 0 | c.692 others(6): Show |
CUL9 | ENSG00000112659.14 | transcript | ENST00000252050.9 | protein_coding | 36/40 | chr6 | TogoVar | ||||||
CUTA_chr6_33411442_33423107 | 33417313 | G | A | splice_region_variant others(1): Show |
LOW | HG00642.hp2 HG00741.hp1 HG01081.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 6 | 339 | 0.0177 | 0 | c.258 others(5): Show |
CUTA | ENSG00000112514.18 | transcript | ENST00000488034.6 | protein_coding | 2/5 | chr6 | TogoVar | ||||||
CUTA_chr6_33411442_33423107 | 33417700 | G | A | splice_region_variant others(1): Show |
LOW | HG00544.hp1 NA18747.hp2 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 3 | 339 | 0.0089 | 0 | c.43- others(4): Show |
CUTA | ENSG00000112514.18 | transcript | ENST00000488034.6 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
CUX1_chr7_101811007_102288958 | 101916233 | G | A | splice_region_variant others(1): Show |
LOW | HG01515.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 132 | 0.0076 | 0 | c.174 others(5): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000622516.6 | protein_coding | 2/22 | chr7 | TogoVar | ||||||
CUX1_chr7_101811007_102288958 | 102111780 | A | G | splice_region_variant others(1): Show |
LOW | HG00639.hp2 HG01074.hp1 HG01099.hp2 others(17): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0025others(17): Show | 20 | 132 | 0.1515 | 0 | c.640 others(5): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000622516.6 | protein_coding | 7/22 | chr7 | TogoVar | ||||||
CUX1_chr7_101811007_102288958 | 102277945 | C | G | splice_region_variant others(1): Show |
LOW | HG01884.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0132 | 1 | 132 | 0.0076 | 0 | c.156 others(6): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000622516.6 | protein_coding | 17/22 | chr7 | TogoVar | ||||||
CUX1_chr7_101811007_102288958 | 102282707 | G | C | splice_region_variant others(1): Show |
LOW | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 132 | 0.0076 | 0 | c.190 others(6): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000622516.6 | protein_coding | 21/22 | chr7 | TogoVar | ||||||
CUX1_chr7_101812626_102263233 | 101916233 | G | A | splice_region_variant others(1): Show |
LOW | HG01515.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093 | 1 | 136 | 0.0074 | 0 | c.141 others(5): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000292535.12 | protein_coding | 2/23 | chr7 | TogoVar | ||||||
CUX1_chr7_101812626_102263233 | 102111780 | A | G | splice_region_variant others(1): Show |
LOW | HG00639.hp2 HG01074.hp1 HG01099.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0019others(11): Show | a0001c0001t0003g0008a0001c0001t0003g0036a0001c0001t0006g0043others(18): Show | 21 | 136 | 0.1544 | 0 | c.607 others(5): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000292535.12 | protein_coding | 7/23 | chr7 | TogoVar | ||||||
CUX1_chr7_101812626_102263233 | 102239589 | G | A | splice_region_variant others(1): Show |
LOW | HG02735.hp1 | a0001 | a0001c0003 | a0001c0003t0039 | a0001c0003t0039g0030 | 1 | 136 | 0.0074 | 0 | c.388 others(6): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000292535.12 | protein_coding | 23/23 | chr7 | TogoVar | ||||||
CUX2_chr12_111029165_111355554 | 111307201 | G | T | missense_variant others(1): Show |
MODERATE | homoSapiens_chm13v2.hp1 | a0007 | a0007c0021 | a0007c0021t0002 | a0007c0021t0002g0064 | 1 | 100 | 0.0100 | 0 | c.105 others(4): Show |
p.Lys others(6): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 12/22 | 1066/6703 | 1053/4461 | 351/1486 | chr12 | TogoVar | ||
CUX2_chr12_111029165_111355554 | 111310035 | T | C | splice_region_variant others(1): Show |
LOW | HG02622.hp2 HG02897.hp2 |
a0001 | a0001c0004a0001c0022 | a0001c0004t0005a0001c0022t0005 | a0001c0004t0005g0007a0001c0022t0005g0034 | 2 | 100 | 0.0200 | 0 | c.125 others(6): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 14/21 | chr12 | TogoVar | ||||||
CWC15_chr11_94957620_94978556 | 94971068 | G | A | splice_region_variant others(1): Show |
LOW | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 410 | 0.0024 | 0 | c.245 others(5): Show |
CWC15 | ENSG00000150316.12 | transcript | ENST00000279839.8 | protein_coding | 3/6 | chr11 | TogoVar | ||||||
CWC22_chr2_179939876_180012297 | 179954356 | C | T | missense_variant others(1): Show |
MODERATE | NA19081.hp1 | a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0086 | 1 | 376 | 0.0027 | 0 | c.153 others(4): Show |
p.Arg others(6): Show |
CWC22 | ENSG00000163510.14 | transcript | ENST00000410053.8 | protein_coding | 16/20 | 2082/3524 | 1538/2727 | 513/908 | chr2 | TogoVar | ||
CWC22_chr2_179939876_180012297 | 179954357 | G | C | missense_variant others(1): Show |
MODERATE | NA19081.hp1 | a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0086 | 1 | 376 | 0.0027 | 0 | c.153 others(4): Show |
p.Arg others(6): Show |
CWC22 | ENSG00000163510.14 | transcript | ENST00000410053.8 | protein_coding | 16/20 | 2081/3524 | 1537/2727 | 513/908 | chr2 | TogoVar | ||
CWC22_chr2_179939876_180012297 | 179954359 | TAATAAAT others(6): Show |
T | splice_region_variant others(1): Show |
LOW | NA19081.hp1 | a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0086 | 1 | 376 | 0.0027 | -13 | c.153 others(27): Show |
CWC22 | ENSG00000163510.14 | transcript | ENST00000410053.8 | protein_coding | 15/19 | chr2 | TogoVar | ||||||
CWC22_chr2_179939876_180012297 | 179970862 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(366): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0001c0008others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(269): Show | 369 | 376 | 0.9814 | 0 | c.941 others(5): Show |
CWC22 | ENSG00000163510.14 | transcript | ENST00000410053.8 | protein_coding | 9/19 | chr2 | TogoVar | ||||||
CWC25_chr17_38795441_38830321 | 38806981 | A | G | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG01884.hp2 HG02145.hp1 others(64): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0005a0001c0002t0006a0001c0002t0008others(3): Show | a0001c0002t0005g0007a0001c0002t0005g0012a0001c0002t0005g0019others(50): Show | 67 | 383 | 0.1749 | 0 | c.691 others(5): Show |
CWC25 | ENSG00000273559.5 | transcript | ENST00000614790.5 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
CWC27_chr5_64763930_65023750 | 64774691 | G | A | missense_variant others(1): Show |
MODERATE | HG02897.hp1 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0179 | 1 | 260 | 0.0039 | 0 | c.43G others(2): Show |
p.Val others(5): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 2/14 | 260/2065 | 43/1419 | 15/472 | chr5 | TogoVar | ||
CWC27_chr5_64763930_65023750 | 64774790 | A | AAATTATG others(2): Show |
splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(166): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0012a0001c0001t0001g0081a0001c0001t0001g0082others(166): Show | 169 | 260 | 0.6500 | 9 | c.139 others(20): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 2/13 | chr5 | TogoVar | ||||||
CWC27_chr5_64763930_65023750 | 64800242 | T | C | splice_region_variant others(1): Show |
LOW | HG02258.hp2 HG03453.hp1 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0100a0001c0005t0002g0260 | 2 | 260 | 0.0077 | 0 | c.670 others(5): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 7/13 | chr5 | TogoVar | ||||||
CWC27_chr5_64763930_65023750 | 64801299 | T | C | splice_region_variant others(1): Show |
LOW | HG01978.hp1 HG03098.hp1 HG03225.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0057a0002c0002t0002g0236a0002c0002t0002g0237 | 3 | 260 | 0.0115 | 0 | c.750 others(5): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 8/13 | chr5 | TogoVar |