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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC77_chr12_396644_447642 | 421310 | C | CACATAGC others(1025): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 282 | 0.0035 | 1032 | c.413 others(1049): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1025): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0003 | 1 | 8 | 0.1250 | 1032 | c.328 others(1049): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1025): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0250 | 1 | 8 | 0.1250 | 1032 | c.328 others(1049): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1025): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0188 | 1 | 8 | 0.1250 | 1032 | c.328 others(1049): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1025): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0268 | 1 | 8 | 0.1250 | 1032 | c.328 others(1049): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1025): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(50): Show |
a0001a0002a0006others(5): Show | a0001c0025a0001c0030a0001c0065others(13): Show | a0001c0025t0001a0001c0030t0001a0001c0065t0001others(13): Show | a0001c0025t0001g0010 a0001c0025t0001g0276 a0001c0030t0001g0045 others(50): Show |
53 | 60 | 0.8833 | 1032 | c.328 others(1049): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1025): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0022 | a0002c0022t0001 | a0002c0022t0001g0016 | 1 | 8 | 0.1250 | 1032 | c.328 others(1049): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110385930 | T | TTACAGTG others(1025): Show |
intron_variant | MODIFIER | NA19005.hp1 NA19062.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0002 | a0001c0001t0003g0063 a0001c0003t0002g0296 |
2 | 185 | 0.0108 | 1032 | c.180 others(1051): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400031 | T | TCACCACC others(1025): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0011 | a0011c0164 | a0011c0164t0001 | a0011c0164t0001g0215 | 1 | 165 | 0.0061 | 1032 | c.323 others(1049): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1025): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0056 | 1 | 137 | 0.0073 | 1032 | c.-14 others(1051): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1025): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02622.hp1 HG02717.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0224 others(7): Show |
10 | 146 | 0.0685 | 1032 | c.-14 others(1051): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(1025): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0011 | 1 | 6 | 0.1667 | 1032 | c.-17 others(1051): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 315730 | G | GACACAGA others(1025): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01515.hp1 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0089 a0003c0004t0002g0090 |
2 | 69 | 0.0290 | 1032 | c.488 others(1047): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(1025): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 a0001c0001t0004g0111 |
3 | 126 | 0.0238 | 1032 | c.*65 others(1043): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1025): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0008 | 1 | 3 | 0.3333 | 1032 | c.174 others(1051): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256763 | A | ATATATAG others(1025): Show |
upstream_gene_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 409 | 0.0024 | 1032 | c.-29 others(1043): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2923 | chr1 | TogoVar | |||||||
LRP1B_chr2_140226423_142136016 | 142027732 | T | TGAAAGCT others(1025): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0010 | 1 | 27 | 0.0370 | 1032 | c.82+ others(1051): Show |
LRP1B | ENSG00000168702.18 | transcript | ENST00000389484.8 | protein_coding | 1/90 | chr2 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53284196 | T | TACTTACC others(1025): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 219 | 0.0046 | 1032 | c.368 others(1049): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
MED16_chr19_862963_898187 | 871898 | A | AGGGGAGA others(1025): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0007 | 1 | 44 | 0.0227 | 1032 | c.209 others(1047): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CGCTCCCC others(1025): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0055 | 1 | 3 | 0.3333 | 1032 | c.-12 others(1051): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432638 | A | AGAAAGGG others(1025): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0056 | 1 | 229 | 0.0044 | 1032 | c.225 others(1049): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(1025): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03130.hp2 |
a0003 | a0003c0004a0003c0012 | a0003c0004t0001a0003c0012t0001 | a0003c0004t0001g0164 a0003c0012t0001g0165 |
2 | 7 | 0.2857 | 1032 | c.-8+ others(1045): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(1025): Show |
intron_variant | MODIFIER | HG01243.hp1 HG06807.hp2 NA18522.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0009 | 4 | 9 | 0.4444 | 1032 | c.-8+ others(1045): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(1025): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02723.hp2 HG02818.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0012 | 4 | 9 | 0.4444 | 1032 | c.-8+ others(1045): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
NOL4L_chr20_32438059_32590333 | 32563187 | G | GGGAGGGT others(1025): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0041 | 1 | 106 | 0.0094 | 1032 | c.321 others(1051): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 1/10 | chr20 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 977247 | C | CTCCCCCC others(1025): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 230 | 0.0043 | 1032 | c.215 others(1049): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(1025): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 HG03130.hp1 |
a0001a0015 | a0001c0004a0015c0031 | a0001c0004t0009a0015c0031t0009 | a0001c0004t0009g0045 a0015c0031t0009g0044 |
2 | 6 | 0.3333 | 1032 | c.*15 others(1043): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(1025): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02818.hp2 HG06807.hp2 others(2): Show |
a0003 | a0003c0008 | a0003c0008t0004 | a0003c0008t0004g0007 | 5 | 9 | 0.5556 | 1032 | c.*15 others(1043): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(1025): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02723.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0016 a0001c0007t0004g0028 |
4 | 8 | 0.5000 | 1032 | c.*15 others(1043): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51982220 | A | ATCCGGGA others(1025): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0115 | 1 | 93 | 0.0108 | 1032 | c.575 others(1053): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51982220 | A | ATCCGGGA others(1025): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0005 | a0005c0037 | a0005c0037t0001 | a0005c0037t0001g0038 | 1 | 93 | 0.0108 | 1032 | c.575 others(1053): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51982220 | A | ATCCGGGA others(1025): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0106 | 1 | 93 | 0.0108 | 1032 | c.575 others(1053): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PLEKHN1_chr1_961482_980865 | 977247 | C | CTCCCCCC others(1025): Show |
downstream_gene_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 243 | 0.0041 | 1032 | c.*26 others(1043): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1383 | chr1 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167969 | T | TCTCCCCT others(1025): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 228 | 0.0044 | 1032 | c.306 others(1051): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(1025): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0004 | a0002c0004t0009 | a0002c0004t0009g0011 | 1 | 3 | 0.3333 | 1032 | c.159 others(1049): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1025): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0016 others(77): Show |
81 | 83 | 0.9759 | 1032 | c.29- others(1047): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1025): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 3 | 0.3333 | 1032 | c.29- others(1047): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1025): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00642.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0046 a0001c0001t0001g0078 a0001c0001t0001g0079 others(39): Show |
43 | 45 | 0.9556 | 1032 | c.29- others(1047): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1025): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG01069.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0001 a0001c0001t0002g0052 a0001c0001t0002g0071 others(16): Show |
21 | 23 | 0.9130 | 1032 | c.29- others(1047): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1025): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG01256.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(1): Show | a0001c0001t0001g0194 a0001c0001t0006g0021 a0001c0001t0006g0181 others(2): Show |
5 | 7 | 0.7143 | 1032 | c.29- others(1047): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1025): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01255.hp2 HG01256.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0057a0001c0002t0040 | a0001c0001t0002g0055 a0001c0001t0002g0081 a0001c0001t0057g0053 others(1): Show |
4 | 6 | 0.6667 | 1032 | c.29- others(1047): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1025): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02622.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0023 | a0001c0001t0004g0148 a0001c0001t0004g0209 a0001c0001t0023g0149 others(1): Show |
4 | 6 | 0.6667 | 1032 | c.29- others(1047): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197114 | C | CATCTATC others(1025): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0003 | a0003c0006 | a0003c0006t0007 | a0003c0006t0007g0339 | 1 | 396 | 0.0025 | 1032 | c.107 others(1049): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(1025): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0006 | a0003c0006t0007 | a0003c0006t0007g0346 | 1 | 201 | 0.0050 | 1032 | c.107 others(1049): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(1025): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0004 | a0004c0022 | a0004c0022t0007 | a0004c0022t0007g0220 | 1 | 201 | 0.0050 | 1032 | c.107 others(1049): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1025): Show |
upstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 28 | 0.0357 | 1032 | c.-50 others(1043): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870213 | C | CACACACA others(1025): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 | 1 | 281 | 0.0036 | 1032 | c.*35 others(1051): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1026): Show |
3_prime_UTR_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0002 | a0001c0002t0068 | a0001c0002t0068g0090 | 1 | 13 | 0.0769 | 1033 | c.*23 others(1044): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1026): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 8 | 0.1250 | 1033 | c.285 others(1052): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1026): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0179 | 1 | 8 | 0.1250 | 1033 | c.285 others(1052): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |