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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPH3AL_chr17_207389_357807 | 305109 | A | AGGGGACA others(753): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0042 | 1 | 20 | 0.0500 | 760 | c.351 others(779): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 934657 | A | AGGCTGCT others(753): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0202 | 1 | 380 | 0.0026 | 760 | c.843 others(777): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(753): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 230 | 0.0043 | 760 | c.115 others(777): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44302613 | T | TAGCAGGG others(753): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 121 | 0.0083 | 760 | c.-32 others(777): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 1/4 | chr22 | TogoVar | |||||||
SLAIN1_chr13_77692687_77769229 | 77703948 | T | TAAAATAT others(753): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 1 | 158 | 0.0063 | 760 | c.626 others(777): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(753): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0083 | 1 | 84 | 0.0119 | 760 | c.774 others(777): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(753): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0082 | 1 | 84 | 0.0119 | 760 | c.774 others(777): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168726523 | G | GGAGGCAG others(753): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0028 | 1 | 107 | 0.0093 | 760 | c.227 others(779): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168726523 | G | GGAGGCAG others(753): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0042 | a0001c0042t0032 | a0001c0042t0032g0130 | 1 | 107 | 0.0093 | 760 | c.227 others(779): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46184511 | C | CCAACCCA others(753): Show |
upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 92 | 0.0109 | 760 | c.-11 others(771): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 53 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46184564 | C | CCAACCCA others(753): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001 a0001c0001t0006g0094 |
2 | 244 | 0.0082 | 760 | c.-11 others(771): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 106 | chr21 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89852655 | G | GATCCCAT others(753): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0272 | 1 | 296 | 0.0034 | 760 | c.646 others(777): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852861 | A | ATGGCCCG others(753): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0340 | 1 | 347 | 0.0029 | 760 | c.646 others(777): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SREBF1_chr17_17806334_17841986 | 17831079 | A | AGCCACCT others(753): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02970.hp2 HG03516.hp2 |
a0001a0011 | a0001c0004a0011c0012 | a0001c0004t0010a0011c0012t0010 | a0001c0004t0010g0126 a0001c0004t0010g0197 a0011c0012t0010g0198 |
3 | 220 | 0.0136 | 760 | c.91+ others(775): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
STAG1_chr3_136331236_136757378 | 136702117 | G | GACAGAGA others(753): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0192 | 1 | 230 | 0.0043 | 760 | c.-84 others(779): Show |
STAG1 | ENSG00000118007.13 | transcript | ENST00000383202.7 | protein_coding | 1/33 | chr3 | TogoVar | |||||||
TAS2R4_chr7_141771674_141786691 | 141776460 | G | GTGCCACC others(753): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG02071.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 4 | 444 | 0.0090 | 760 | c.-20 others(771): Show |
TAS2R4 | ENSG00000127364.4 | transcript | ENST00000247881.4 | protein_coding | 213 | chr7 | TogoVar | |||||||
TFPT_chr19_54102020_54120657 | 54109797 | C | CTCCACCC others(753): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01257.hp1 HG01258.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0022 a0001c0001t0001g0072 a0001c0003t0001g0034 |
6 | 189 | 0.0317 | 760 | c.353 others(775): Show |
TFPT | ENSG00000105619.14 | transcript | ENST00000391759.6 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747937 | G | GCACTGGG others(753): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0081 | 1 | 252 | 0.0040 | 760 | c.189 others(775): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TNFRSF18_chr1_1198508_1211592 | 1202444 | C | CCAGTACC others(753): Show |
downstream_gene_variant | MODIFIER | NA18945.hp1 NA18945.hp2 NA18956.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0003 a0001c0001t0007g0029 |
8 | 321 | 0.0249 | 760 | c.*13 others(771): Show |
TNFRSF18 | ENSG00000186891.14 | transcript | ENST00000379268.7 | protein_coding | 1063 | chr1 | TogoVar | |||||||
TNFRSF18_chr1_1198508_1211592 | 1202444 | C | CCAGTACC others(753): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0011 | 1 | 314 | 0.0032 | 760 | c.*13 others(771): Show |
TNFRSF18 | ENSG00000186891.14 | transcript | ENST00000379268.7 | protein_coding | 1063 | chr1 | TogoVar | |||||||
TNFRSF18_chr1_1198508_1211592 | 1202444 | C | CCAGTACC others(753): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 314 | 0.0032 | 760 | c.*13 others(771): Show |
TNFRSF18 | ENSG00000186891.14 | transcript | ENST00000379268.7 | protein_coding | 1063 | chr1 | TogoVar | |||||||
TNFRSF18_chr1_1198508_1211592 | 1202444 | C | CCAGTACC others(753): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG03516.hp2 NA18612.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0001c0001t0008a0004c0006t0002 | a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0008g0024 others(1): Show |
7 | 320 | 0.0219 | 760 | c.*13 others(771): Show |
TNFRSF18 | ENSG00000186891.14 | transcript | ENST00000379268.7 | protein_coding | 1063 | chr1 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(753): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0145 | 1 | 98 | 0.0102 | 760 | c.41- others(777): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204105 | T | TATTATAT others(753): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0068 | 1 | 125 | 0.0080 | 760 | c.41- others(777): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSNAXIP1_chr16_67801889_67833068 | 67809198 | G | GGTGGCTC others(753): Show |
intron_variant | MODIFIER | HG01192.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 a0001c0001t0001g0134 |
2 | 130 | 0.0154 | 760 | c.47+ others(775): Show |
TSNAXIP1 | ENSG00000102904.15 | transcript | ENST00000561639.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TTLL10_chr1_1168880_1202936 | 1202444 | C | CCAGTACC others(753): Show |
downstream_gene_variant | MODIFIER | NA18949.hp1 | a0007 | a0007c0007 | a0007c0007t0004 | a0007c0007t0004g0070 | 1 | 308 | 0.0032 | 760 | c.*45 others(771): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 4509 | chr1 | TogoVar | |||||||
TTLL10_chr1_1168880_1202936 | 1202444 | C | CCAGTACC others(753): Show |
downstream_gene_variant | MODIFIER | NA18945.hp1 NA18945.hp2 NA18971.hp1 others(3): Show |
a0004a0007 | a0004c0004a0007c0007 | a0004c0004t0004a0007c0007t0004 | a0004c0004t0004g0066 a0004c0004t0004g0069 a0007c0007t0004g0018 others(2): Show |
6 | 313 | 0.0192 | 760 | c.*45 others(771): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 4509 | chr1 | TogoVar | |||||||
TTLL10_chr1_1168880_1202936 | 1202444 | C | CCAGTACC others(753): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0005 | a0005c0010 | a0005c0010t0003 | a0005c0010t0003g0139 | 1 | 308 | 0.0032 | 760 | c.*45 others(771): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 4509 | chr1 | TogoVar | |||||||
TTLL10_chr1_1168880_1202936 | 1202444 | C | CCAGTACC others(753): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0232 | 1 | 308 | 0.0032 | 760 | c.*45 others(771): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 4509 | chr1 | TogoVar | |||||||
TTLL10_chr1_1168880_1202936 | 1202444 | C | CCAGTACC others(753): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 NA18939.hp2 NA19068.hp2 others(1): Show |
a0004a0005 | a0004c0004a0004c0027a0005c0010 | a0004c0004t0004a0004c0027t0001a0005c0010t0004 | a0004c0004t0004g0048 a0004c0004t0004g0058 a0004c0027t0001g0045 others(1): Show |
4 | 311 | 0.0129 | 760 | c.*45 others(771): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 4509 | chr1 | TogoVar | |||||||
UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(753): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 115 | 0.0087 | 760 | c.246 others(779): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBE2E3_chr2_180975605_181068425 | 181021562 | T | TCCTTCCT others(753): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 115 | 0.0087 | 760 | c.246 others(779): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7679038 | T | TATAAATA others(753): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02886.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0023a0001c0002t0001 | a0001c0001t0023g0188 a0001c0002t0001g0239 |
2 | 160 | 0.0125 | 760 | c.82+ others(775): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7679098 | C | CATATATT others(753): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012 | a0001c0001t0006g0089 a0001c0001t0012g0088 |
2 | 25 | 0.0800 | 760 | c.82+ others(775): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7679098 | C | CATATATT others(753): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0091 | 1 | 24 | 0.0417 | 760 | c.82+ others(775): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7679098 | C | CATATATT others(753): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 24 | 0.0417 | 760 | c.82+ others(775): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VEGFB_chr11_64229584_64244264 | 64237126 | G | GAGGGAGA others(753): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 221 | 0.0045 | 760 | c.375 others(773): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159088856 | A | AGCTCCTC others(753): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 NA18939.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0032a0001c0002t0002 | a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0168 others(6): Show |
9 | 36 | 0.2500 | 760 | c.357 others(779): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(753): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 12 | 0.0833 | 760 | c.55+ others(775): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
ZNF627_chr19_11592483_11624161 | 11613137 | C | CCCTTCCC others(753): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098 | 1 | 270 | 0.0037 | 760 | c.4-1 others(773): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99838786 | C | CCCCCCCA others(754): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 266 | 0.0038 | 761 | c.361 others(780): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ARFRP1_chr20_63693647_63712976 | 63693732 | T | TCCACCAC others(754): Show |
downstream_gene_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 99 | 0.0101 | 761 | c.*67 others(772): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4914 | chr20 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(754): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0103 | 1 | 5 | 0.2000 | 761 | c.927 others(778): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1099023 | C | CAGAGAGG others(754): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01192.hp1 HG01243.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0072 a0001c0001t0001g0285 a0001c0001t0001g0290 others(32): Show |
35 | 247 | 0.1417 | 761 | c.-13 others(780): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004348 | A | ATGTGGTG others(754): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 77 | 0.0130 | 761 | c.963 others(778): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255222 | A | ATATATAT others(754): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 94 | 0.0106 | 761 | c.907 others(776): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CD2AP_chr6_47472789_47632263 | 47505621 | G | GGCTGACC others(754): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 316 | 0.0032 | 761 | c.165 others(778): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CD2AP_chr6_47472789_47632263 | 47505621 | G | GGCTGACC others(754): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 316 | 0.0032 | 761 | c.165 others(778): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(754): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 HG03239.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 2 | 12 | 0.1667 | 761 | c.-26 others(770): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133807 | C | CCTCTCCA others(754): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 170 | 0.0059 | 761 | c.-42 others(772): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3954 | chr19 | TogoVar |