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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1108): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0123 | 1 | 226 | 0.0044 | 1115 | c.217 others(1134): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1108): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0151 | 1 | 226 | 0.0044 | 1115 | c.217 others(1134): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1108): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02895.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0022 | a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0009g0150 others(1): Show |
4 | 226 | 0.0177 | 1115 | c.217 others(1134): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1108): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01255.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001a0003c0003t0003 | a0001c0001t0001g0192 a0003c0003t0001g0171 a0003c0003t0001g0175 others(10): Show |
13 | 226 | 0.0575 | 1115 | c.217 others(1134): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185961 | T | TGCGTAGG others(1108): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 338 | 0.0030 | 1115 | c.300 others(1132): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11284432 | T | TGGATGAG others(1108): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0130 | 1 | 194 | 0.0052 | 1115 | c.842 others(1132): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11284432 | T | TGGATGAG others(1108): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 194 | 0.0052 | 1115 | c.842 others(1132): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11284432 | T | TGGATGAG others(1108): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(54): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0085 others(54): Show |
57 | 194 | 0.2938 | 1115 | c.842 others(1132): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11284432 | T | TGGATGAG others(1108): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0100 | 1 | 194 | 0.0052 | 1115 | c.842 others(1132): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1108): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0178 | 1 | 258 | 0.0039 | 1115 | c.403 others(1130): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CFAP36_chr2_55514718_55550079 | 55528172 | A | ATAATTTA others(1108): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0091 |
3 | 400 | 0.0075 | 1115 | c.283 others(1130): Show |
CFAP36 | ENSG00000163001.12 | transcript | ENST00000349456.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333123 | C | CAGATAAG others(1108): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 370 | 0.0027 | 1115 | c.891 others(1132): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45501012 | G | GTTTGGTG others(1108): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0070 | a0002c0070t0010 | a0002c0070t0010g0066 | 1 | 292 | 0.0034 | 1115 | c.268 others(1134): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | chr21 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAC others(1108): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0003 | a0003c0033 | a0003c0033t0001 | a0003c0033t0001g0215 | 1 | 252 | 0.0040 | 1115 | c.118 others(1134): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619474 | C | CCTGCAGC others(1108): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0115 | 1 | 250 | 0.0040 | 1115 | c.-10 others(1134): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355457 | A | AGGAGGAA others(1108): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0032 | 1 | 82 | 0.0122 | 1115 | c.758 others(1130): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294612 | C | CCATCCAT others(1108): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 388 | 0.0026 | 1115 | c.105 others(1132): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294667 | T | TCTGTCCA others(1108): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 388 | 0.0026 | 1115 | c.105 others(1132): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294671 | T | TCTGTCCA others(1108): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0111 | 1 | 388 | 0.0026 | 1115 | c.105 others(1132): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294675 | T | TCTGTCCA others(1108): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02896.hp1 HG02896.hp2 others(3): Show |
a0001a0009 | a0001c0001a0009c0006 | a0001c0001t0002a0009c0006t0002 | a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0157 others(3): Show |
6 | 388 | 0.0155 | 1115 | c.105 others(1132): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322960 | A | ATATGGAA others(1108): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0195 | 1 | 323 | 0.0031 | 1115 | c.-20 others(1126): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2009 | chr21 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997382 | G | GGGGGCGG others(1108): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0341 | 1 | 375 | 0.0027 | 1115 | c.-20 others(1126): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 288 | chr6 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(1108): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01261.hp1 HG03688.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0012a0001c0067others(1): Show | a0001c0001t0001a0001c0012t0001a0001c0067t0001others(1): Show | a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0012t0001g0074 others(2): Show |
5 | 88 | 0.0568 | 1115 | c.507 others(1134): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1108): Show |
intron_variant | MODIFIER | HG03831.hp2 HG03834.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0013 | a0002c0002t0001g0126 a0002c0002t0013g0127 |
2 | 330 | 0.0061 | 1115 | c.-5+ others(1130): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCTCTCAC others(1108): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0075 | a0001c0002t0075g0158 | 1 | 370 | 0.0027 | 1115 | c.438 others(1132): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1108): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 304 | 0.0033 | 1115 | c.347 others(1130): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33820898 | T | TGTGGCTC others(1108): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0058 | a0001c0058t0002 | a0001c0058t0002g0073 | 1 | 154 | 0.0065 | 1115 | c.108 others(1132): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 78/103 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33820898 | T | TGTGGCTC others(1108): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0120 | a0002c0120t0001 | a0002c0120t0001g0090 | 1 | 154 | 0.0065 | 1115 | c.108 others(1132): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 78/103 | chr15 | TogoVar | |||||||
SNX6_chr14_34556093_34635148 | 34557515 | T | TTCTTCTT others(1108): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0301 | 1 | 322 | 0.0031 | 1115 | c.*56 others(1126): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 3577 | chr14 | TogoVar | |||||||
SYTL3_chr6_158645054_158769871 | 158701175 | G | GGTGAGCT others(1108): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 292 | 0.0034 | 1115 | c.395 others(1132): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TATDN1_chr8_124483498_124544085 | 124514113 | T | TTAACCCA others(1108): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 338 | 0.0030 | 1115 | c.389 others(1132): Show |
TATDN1 | ENSG00000147687.19 | transcript | ENST00000276692.11 | protein_coding | 6/11 | chr8 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(1108): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0004 | a0004c0004 | a0004c0004t0034 | a0004c0004t0034g0173 | 1 | 174 | 0.0058 | 1115 | c.41- others(1132): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1109): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 242 | 0.0041 | 1116 | c.927 others(1133): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1109): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0003 | a0003c0003 | a0003c0003t0012 | a0003c0003t0012g0193 | 1 | 226 | 0.0044 | 1116 | c.217 others(1135): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1109): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01169.hp1 HG01175.hp2 others(7): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0002a0004c0004t0013others(1): Show | a0003c0003t0001g0205 a0004c0004t0002g0172 a0004c0004t0002g0173 others(7): Show |
10 | 226 | 0.0443 | 1116 | c.217 others(1135): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1109): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0201 | 1 | 226 | 0.0044 | 1116 | c.217 others(1135): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79309250 | C | CTGAGGAC others(1109): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0024 | a0001c0024t0004 | a0001c0024t0004g0058 | 1 | 298 | 0.0034 | 1116 | c.177 others(1135): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | chr18 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79336043 | A | ATGCCCTC others(1109): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 298 | 0.0034 | 1116 | c.202 others(1133): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1109): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0139 | 1 | 326 | 0.0031 | 1116 | c.327 others(1133): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCATC others(1109): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0254 | 1 | 376 | 0.0027 | 1116 | c.63+ others(1129): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(1109): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0025 | 1 | 58 | 0.0172 | 1116 | c.234 others(1137): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11284432 | T | TGGATGAG others(1109): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0112 | 1 | 194 | 0.0052 | 1116 | c.842 others(1133): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11284432 | T | TGGATGAG others(1109): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02109.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(9): Show | a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0123 others(12): Show |
15 | 194 | 0.0773 | 1116 | c.842 others(1133): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11284432 | T | TGGATGAG others(1109): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0055 | 1 | 194 | 0.0052 | 1116 | c.842 others(1133): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11284432 | T | TGGATGAG others(1109): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0019a0001c0003t0002 | a0001c0001t0019g0051 a0001c0003t0002g0021 |
2 | 194 | 0.0103 | 1116 | c.842 others(1133): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACAGCCC others(1109): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0113 | 1 | 236 | 0.0042 | 1116 | c.294 others(1133): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958279 | T | TCACCACT others(1109): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0199 a0001c0002t0005g0200 |
2 | 230 | 0.0087 | 1116 | c.724 others(1135): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGAGG others(1109): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0082 | a0082c0097 | a0082c0097t0001 | a0082c0097t0001g0105 | 1 | 252 | 0.0040 | 1116 | c.118 others(1135): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAC others(1109): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0013 | a0013c0004 | a0013c0004t0001 | a0013c0004t0001g0082 | 1 | 252 | 0.0040 | 1116 | c.118 others(1135): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1109): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0071 | a0071c0197 | a0071c0197t0001 | a0071c0197t0001g0058 | 1 | 252 | 0.0040 | 1116 | c.118 others(1135): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar |