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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKAP10_chr17_19899302_19982828 | 19951137 | TGGGGGGC others(87): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(51): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0003a0001c0001t0006a0001c0001t0019others(1): Show | a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 others(51): Show |
54 | 276 | 0.1957 | -94 | c.878 others(111): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
AMTN_chr4_70513569_70537743 | 70516310 | ATATATAT others(87): Show |
A | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01257.hp2 HG01258.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 9 | 456 | 0.0197 | -94 | c.-23 others(105): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2258 | chr4 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75210008 | TGTGTTAG others(87): Show |
T | intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 332 | 0.0030 | -94 | c.326 others(109): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 4/25 | chr5 | TogoVar | |||||||
APLP2_chr11_130064894_130149805 | 130095877 | AATGATGA others(87): Show |
A | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 | 1 | 272 | 0.0037 | -94 | c.106 others(113): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
APOA4_chr11_116815700_116828304 | 116825447 | CTGGCTTG others(87): Show |
C | upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 460 | 0.0022 | -94 | c.-23 others(105): Show |
APOA4 | ENSG00000110244.7 | transcript | ENST00000357780.5 | protein_coding | 2144 | chr11 | TogoVar | |||||||
ARHGAP21_chr10_24578614_24728887 | 24656844 | GGGGTCGG others(87): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01255.hp1 HG01496.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0095 others(3): Show |
6 | 350 | 0.0171 | -94 | c.268 others(113): Show |
ARHGAP21 | ENSG00000107863.20 | transcript | ENST00000396432.7 | protein_coding | 4/25 | chr10 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219185 | CATATAAA others(87): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 405 | 0.0025 | -94 | c.670 others(111): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ATF2_chr2_175067259_175173203 | 175108302 | ACCCCGTC others(87): Show |
A | intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0081 | 1 | 222 | 0.0045 | -94 | c.828 others(111): Show |
ATF2 | ENSG00000115966.18 | transcript | ENST00000264110.7 | protein_coding | 10/13 | chr2 | TogoVar | |||||||
ATF2_chr2_175067259_175173203 | 175108401 | GTCCGGGA others(87): Show |
G | intron_variant | MODIFIER | HG02074.hp2 HG04199.hp2 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 |
3 | 222 | 0.0135 | -94 | c.828 others(111): Show |
ATF2 | ENSG00000115966.18 | transcript | ENST00000264110.7 | protein_coding | 10/13 | chr2 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112749886 | CGCGGGGT others(87): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG01123.hp2 HG01891.hp2 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0001c0017others(7): Show | a0001c0002t0001a0001c0004t0006a0001c0017t0060others(8): Show | a0001c0002t0001g0167 a0001c0004t0006g0058 a0001c0004t0006g0061 others(10): Show |
13 | 252 | 0.0516 | -94 | c.40- others(111): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82958798 | TGTGTGTG others(87): Show |
T | intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0034 | 1 | 256 | 0.0039 | -94 | c.681 others(111): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 8/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82958956 | ATGTGTGT others(87): Show |
A | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0032 | 1 | 254 | 0.0039 | -94 | c.681 others(111): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 8/12 | chr17 | TogoVar | |||||||
BANP_chr16_87946434_88082316 | 87996460 | AGCTGGGC others(87): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0028 | a0002c0028t0015 | a0002c0028t0015g0089 | 1 | 169 | 0.0059 | -94 | c.363 others(111): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32346544 | ATATATAT others(87): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02717.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0019others(2): Show | a0001c0001t0015g0042 a0001c0001t0016g0037 a0001c0001t0016g0152 others(3): Show |
6 | 288 | 0.0208 | -94 | c.276 others(113): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90819211 | TTCCACGG others(87): Show |
T | downstream_gene_variant | MODIFIER | HG01346.hp1 HG02109.hp2 HG02615.hp1 others(2): Show |
a0001a0004 | a0001c0009a0004c0008 | a0001c0009t0002a0004c0008t0002 | a0001c0009t0002g0077 a0004c0008t0002g0074 a0004c0008t0002g0075 others(2): Show |
5 | 235 | 0.0213 | -94 | c.*39 others(105): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 3046 | chr15 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57198069 | CTCCTCTC others(87): Show |
C | intron_variant | MODIFIER | NA18963.hp2 NA19005.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0231 a0001c0001t0002g0063 a0001c0001t0009g0042 |
3 | 270 | 0.0111 | -94 | c.760 others(111): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 3/6 | chr20 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1429530 | CCAGCAGT others(87): Show |
C | intron_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0151 | 1 | 275 | 0.0036 | -94 | c.92- others(109): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1430472 | CCAGCAGT others(87): Show |
C | intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0267 | 1 | 304 | 0.0033 | -94 | c.92- others(109): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1430852 | CCAGCAGT others(87): Show |
C | intron_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0183 | 1 | 335 | 0.0030 | -94 | c.92- others(109): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1431183 | CCAGCAGT others(87): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0287 | 1 | 309 | 0.0032 | -94 | c.92- others(109): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1431230 | CCAGCAGT others(87): Show |
C | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0302 | 1 | 335 | 0.0030 | -94 | c.92- others(109): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1431865 | GTCTGGTC others(87): Show |
G | intron_variant | MODIFIER | HG00408.hp2 NA18612.hp2 NA18982.hp1 |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0009 | a0001c0001t0009a0002c0002t0008a0005c0009t0002 | a0001c0001t0009g0156 a0002c0002t0008g0154 a0005c0009t0002g0094 |
3 | 337 | 0.0089 | -94 | c.92- others(109): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1432364 | CCAGCAGT others(87): Show |
C | intron_variant | MODIFIER | HG02280.hp2 NA20129.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0004a0002c0002t0058 | a0001c0003t0004g0287 a0002c0002t0058g0322 |
2 | 305 | 0.0066 | -94 | c.92- others(109): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1432987 | GTCTTCTG others(87): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01256.hp2 HG01258.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0001a0001c0001t0009a0002c0002t0015others(4): Show | a0001c0001t0001g0071 a0001c0001t0009g0180 a0002c0002t0015g0327 others(4): Show |
8 | 358 | 0.0223 | -94 | c.92- others(109): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BTBD18_chr11_57738514_57756819 | 57754637 | TTCCCTCC others(87): Show |
T | upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | -94 | c.-32 others(105): Show |
BTBD18 | ENSG00000233436.8 | transcript | ENST00000422652.6 | protein_coding | 2819 | chr11 | TogoVar | |||||||
C13orf46_chr13_113948705_113979076 | 113974180 | CTGGGGCG others(87): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG02572.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0035a0001c0001t0061 | a0001c0001t0001g0049 a0001c0001t0001g0137 a0001c0001t0035g0166 others(1): Show |
4 | 387 | 0.0103 | -94 | c.-27 others(103): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 105 | chr13 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404575 | GGGGACGG others(87): Show |
G | downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0010 | 1 | 320 | 0.0031 | -94 | c.*24 others(105): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 869 | chr19 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1127931 | CATCTCGG others(87): Show |
C | intron_variant | MODIFIER | NA18522.hp2 NA18986.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012 | a0001c0001t0001g0068 a0001c0001t0004g0199 a0001c0001t0012g0289 |
3 | 283 | 0.0106 | -94 | c.-1- others(107): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49318496 | GGGAAAGG others(87): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01168.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0002t0001g0150 a0001c0002t0001g0156 others(2): Show |
6 | 137 | 0.0438 | -94 | c.835 others(111): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54736037 | ATATATAT others(87): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG02080.hp2 HG02300.hp2 others(1): Show |
a0001 | a0001c0001a0001c0009a0001c0033others(1): Show | a0001c0001t0001a0001c0009t0008a0001c0033t0001others(1): Show | a0001c0001t0001g0035 a0001c0009t0008g0077 a0001c0033t0001g0114 others(1): Show |
4 | 116 | 0.0345 | -94 | c.116 others(115): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1921487 | CCACAGCC others(87): Show |
C | upstream_gene_variant | MODIFIER | HG01256.hp1 HG01496.hp1 HG01952.hp2 others(3): Show |
a0001a0011a0014 | a0001c0001a0001c0005a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0004others(3): Show | a0001c0001t0001g0039 a0001c0001t0003g0181 a0001c0005t0004g0216 others(3): Show |
6 | 170 | 0.0353 | -94 | c.-31 others(105): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 2836 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1921504 | TACCTGGC others(87): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005a0001c0025 | a0001c0001t0002a0001c0001t0015a0001c0005t0001others(1): Show | a0001c0001t0002g0150 a0001c0001t0015g0317 a0001c0005t0001g0258 others(1): Show |
4 | 170 | 0.0235 | -94 | c.-31 others(105): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 2853 | chr12 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18442920 | ATATATGT others(87): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG02040.hp2 HG02523.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0049others(1): Show | a0001c0001t0001g0033 a0001c0001t0001g0119 a0001c0001t0001g0131 others(5): Show |
8 | 200 | 0.0400 | -94 | c.333 others(113): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18442926 | GTATATAT others(87): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02970.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0002 | a0001c0001t0008g0082 a0001c0001t0008g0083 a0001c0002t0002g0140 others(2): Show |
5 | 194 | 0.0258 | -94 | c.333 others(113): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18442920 | ATATATGT others(87): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG02027.hp2 HG02040.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0021a0001c0002t0002 | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0015 others(11): Show |
14 | 300 | 0.0467 | -94 | c.171 others(113): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18442926 | GTATATAT others(87): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02970.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0002 | a0001c0001t0007g0151 a0001c0001t0007g0161 a0001c0002t0002g0247 others(2): Show |
5 | 293 | 0.0171 | -94 | c.171 others(113): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24317623 | AAAGACAG others(87): Show |
A | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 362 | 0.0028 | -94 | c.212 others(113): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77094336 | GGGCTCTG others(87): Show |
G | intron_variant | MODIFIER | NA18940.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0128 a0001c0001t0008g0155 |
2 | 380 | 0.0053 | -94 | c.297 others(109): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88894453 | CGCACACA others(87): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0283 | 1 | 282 | 0.0035 | -94 | c.380 others(111): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88902881 | GCTCCTGC others(87): Show |
G | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 282 | 0.0035 | -94 | c.152 others(111): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CDH7_chr18_65746012_65895337 | 65782022 | CTTTCTCC others(87): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01099.hp1 HG01515.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0002a0002c0002t0003a0002c0003t0014others(1): Show | a0001c0001t0002g0047 a0001c0001t0002g0070 a0002c0002t0003g0041 others(2): Show |
5 | 200 | 0.0250 | -94 | c.210 others(113): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4895407 | GTATACGT others(87): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0115 | 1 | 194 | 0.0052 | -94 | c.691 others(111): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47541700 | AAGAAAGA others(87): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG04228.hp1 NA18979.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0230 others(2): Show |
5 | 338 | 0.0148 | -94 | c.-15 others(115): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96664689 | GTATATAT others(87): Show |
G | intron_variant | MODIFIER | HG03209.hp2 HG03579.hp1 NA18983.hp1 others(1): Show |
a0002a0012a0049others(1): Show | a0002c0003a0012c0021a0049c0039others(1): Show | a0002c0003t0001a0012c0021t0001a0049c0039t0001others(1): Show | a0002c0003t0001g0152 a0012c0021t0001g0206 a0049c0039t0001g0093 others(1): Show |
4 | 158 | 0.0253 | -94 | c.556 others(111): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21427352 | GTAGCAAG others(87): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(167): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0013others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0046 a0001c0001t0001g0069 a0001c0001t0001g0079 others(167): Show |
170 | 258 | 0.6589 | -94 | c.160 others(111): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 4/37 | chr14 | TogoVar | |||||||
CHFR_chr12_132827356_132892605 | 132847917 | CATGCAGA others(87): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0005 | a0001c0005t0038 | a0001c0005t0038g0179 | 1 | 376 | 0.0027 | -94 | c.164 others(110): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 14/17 | chr12 | TogoVar | |||||||
CHRFAM7A_chr15_30355566_30398540 | 30375888 | TGTGGGTG others(87): Show |
T | intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0017 | a0002c0017t0023 | a0002c0017t0023g0021 | 1 | 132 | 0.0076 | -94 | c.160 others(111): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
CLSTN2_chr3_139930185_140582397 | 140419741 | GTATATAT others(87): Show |
G | intron_variant | MODIFIER | HG03130.hp2 NA20300.hp1 |
a0001a0002 | a0001c0009a0002c0005 | a0001c0009t0010a0002c0005t0004 | a0001c0009t0010g0110 a0002c0005t0004g0092 |
2 | 110 | 0.0182 | -94 | c.638 others(111): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140490008 | GTACATGT others(87): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp2 HG03225.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0043a0002c0002t0011 | a0001c0001t0005g0035 a0001c0001t0043g0064 a0002c0002t0011g0039 |
3 | 104 | 0.0288 | -94 | c.134 others(115): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206172917 | CGGGAGAG others(87): Show |
C | downstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 300 | 0.0033 | -94 | c.*31 others(105): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2398 | chr2 | TogoVar |