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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VCX2_chrX_8164944_8176267 | 8169467 | T | TCCTCCCT others(190): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0007 | 1 | 61 | 0.0164 | 197 | c.*56 others(206): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 476 | chrX | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467312 | A | AGGAAGAG others(190): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0007 | 1 | 249 | 0.0040 | 197 | c.*92 others(206): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 803 | chrX | TogoVar | |||||||
VRK2_chr2_58041806_58164871 | 58137180 | A | ATCATATA others(190): Show |
intron_variant | MODIFIER | HG04199.hp1 NA18971.hp2 NA18983.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 others(1): Show |
4 | 138 | 0.0290 | 197 | c.856 others(214): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58137180 | A | ATCATATA others(190): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02015.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0290 |
2 | 136 | 0.0147 | 197 | c.856 others(214): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58137180 | A | ATCATATA others(190): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 135 | 0.0074 | 197 | c.856 others(214): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58137180 | A | ATCATATA others(190): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 135 | 0.0074 | 197 | c.856 others(214): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58137180 | A | ATCATATA others(190): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18992.hp2 NA19056.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 a0001c0001t0002g0237 a0001c0001t0002g0238 others(1): Show |
4 | 138 | 0.0290 | 197 | c.856 others(214): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58137180 | A | ATCATATA others(190): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01256.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0172 a0001c0001t0002g0180 a0001c0001t0002g0212 others(7): Show |
10 | 144 | 0.0694 | 197 | c.856 others(214): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58137180 | A | ATCATATA others(190): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0065 | 1 | 135 | 0.0074 | 197 | c.856 others(214): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58137180 | A | ATCATATA others(190): Show |
intron_variant | MODIFIER | HG01074.hp2 NA20905.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0021 a0002c0002t0002g0075 |
2 | 136 | 0.0147 | 197 | c.856 others(214): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58137180 | A | ATCATATA others(190): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0022 | 1 | 135 | 0.0074 | 197 | c.856 others(214): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58137180 | A | ATCATATA others(190): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 | 1 | 135 | 0.0074 | 197 | c.856 others(214): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VRK2_chr2_58041806_58164871 | 58137182 | C | CATATATG others(190): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0109 | 1 | 236 | 0.0042 | 197 | c.856 others(214): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
WDPCP_chr2_63114559_63593477 | 63575479 | G | GTGTTATA others(190): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 42 | 0.0238 | 197 | c.75+ others(214): Show |
WDPCP | ENSG00000143951.16 | transcript | ENST00000272321.12 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
WDR64_chr1_241647281_241807777 | 241674987 | C | CCCTCCCT others(190): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 264 | 0.0038 | 197 | c.483 others(212): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
XRCC2_chr7_152639776_152681141 | 152674710 | T | TAATATAT others(190): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 67 | 0.0149 | 197 | c.39+ others(212): Show |
XRCC2 | ENSG00000196584.4 | transcript | ENST00000359321.2 | protein_coding | 1/2 | chr7 | TogoVar | |||||||
ZFYVE28_chr4_2264597_2423645 | 2334753 | T | TCCCCTCT others(190): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0230 | 1 | 282 | 0.0035 | 197 | c.701 others(212): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 6/12 | chr4 | TogoVar | |||||||
ZMYND8_chr20_47204214_47361699 | 47225596 | A | AGGAAGGG others(190): Show |
intron_variant | MODIFIER | NA19090.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019 | a0001c0001t0002g0029 a0001c0001t0019g0010 |
2 | 40 | 0.0500 | 197 | c.301 others(216): Show |
ZMYND8 | ENSG00000101040.20 | transcript | ENST00000471951.7 | protein_coding | 18/22 | chr20 | TogoVar | |||||||
ZMYND8_chr20_47204214_47361699 | 47225596 | A | AGGAAGGG others(190): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 39 | 0.0256 | 197 | c.301 others(216): Show |
ZMYND8 | ENSG00000101040.20 | transcript | ENST00000471951.7 | protein_coding | 18/22 | chr20 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958506 | A | ATAATATA others(191): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 a0001c0001t0001g0232 |
2 | 153 | 0.0131 | 198 | c.-34 others(209): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3115 | chr17 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975403 | A | AAATATTT others(191): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0164 | 1 | 167 | 0.0060 | 198 | c.130 others(217): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95126816 | C | CATATATA others(191): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(62): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(31): Show | a0001c0001t0001g0064 a0001c0001t0001g0082 a0001c0001t0001g0126 others(62): Show |
65 | 201 | 0.3234 | 198 | c.245 others(219): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95126816 | C | CATATATA others(191): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG02922.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0042others(2): Show | a0001c0001t0002a0001c0002t0002a0001c0042t0004others(2): Show | a0001c0001t0002g0168 a0001c0002t0002g0162 a0001c0042t0004g0040 others(4): Show |
7 | 143 | 0.0490 | 198 | c.245 others(219): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1074050 | A | AAGAGTCC others(191): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0057 | a0001c0001t0001g0145 a0001c0001t0057g0074 |
2 | 322 | 0.0062 | 198 | c.701 others(213): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1074194 | C | CACCTGCC others(191): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0316 | 1 | 336 | 0.0030 | 198 | c.701 others(213): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1074313 | G | GCAGAGTC others(191): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0109 | 1 | 330 | 0.0030 | 198 | c.701 others(213): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1121567 | C | CTGCTGTG others(191): Show |
intron_variant | MODIFIER | HG03834.hp2 HG04199.hp2 NA18954.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0001g0188 a0001c0001t0004g0301 a0001c0001t0009g0045 others(3): Show |
6 | 336 | 0.0179 | 198 | c.246 others(215): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1121602 | G | GAGCTGAG others(191): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02040.hp2 HG02080.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0004a0001c0001t0022a0001c0001t0026others(2): Show | a0001c0001t0004g0258 a0001c0001t0022g0030 a0001c0001t0026g0026 others(2): Show |
5 | 336 | 0.0149 | 198 | c.246 others(215): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109210000 | T | TATATATG others(191): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0150 | 1 | 291 | 0.0034 | 198 | c.324 others(215): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1288899 | T | TCCGTCCC others(191): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 246 | 0.0081 | 198 | c.*46 others(209): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3491 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289337 | C | CCGTGTCT others(191): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 271 | 0.0037 | 198 | c.*42 others(209): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3053 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289785 | C | CCGTGTCT others(191): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0154 | 1 | 253 | 0.0040 | 198 | c.*37 others(209): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2605 | chr1 | TogoVar | |||||||
ADAM8_chr10_133257423_133281868 | 133265181 | C | CGCCCAGC others(191): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 371 | 0.0027 | 198 | c.232 others(217): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 21/22 | chr10 | TogoVar | |||||||
ADAM8_chr10_133257423_133281868 | 133265181 | C | CGCGCAGC others(191): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03139.hp1 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 3 | 373 | 0.0080 | 198 | c.232 others(217): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 21/22 | chr10 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(191): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0009 | a0009c0027 | a0009c0027t0001 | a0009c0027t0001g0216 | 1 | 25 | 0.0400 | 198 | c.259 others(219): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1327290 | C | CCAGCGCC others(191): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0025 | 1 | 81 | 0.0123 | 198 | c.107 others(219): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1373787 | A | ACTCCGCG others(191): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0002 | 1 | 30 | 0.0333 | 198 | c.187 others(215): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1373799 | T | TTTCCTAG others(191): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02717.hp1 HG03669.hp1 others(1): Show |
a0004a0006a0008 | a0004c0005a0006c0009a0008c0008 | a0004c0005t0002a0004c0005t0037a0006c0009t0024others(1): Show | a0004c0005t0002g0039 a0004c0005t0037g0064 a0006c0009t0024g0016 others(1): Show |
4 | 53 | 0.0755 | 198 | c.187 others(215): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1373820 | A | ACTCCGCG others(191): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0004 | a0002c0004t0047 | a0002c0004t0047g0063 | 1 | 44 | 0.0227 | 198 | c.187 others(215): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1464248 | C | CGGAGAAG others(191): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18989.hp2 |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0062 | a0002c0002t0007g0002 a0002c0002t0062g0093 |
2 | 79 | 0.0253 | 198 | c.101 others(217): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1464248 | C | CGGAGAAG others(191): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01433.hp1 HG01934.hp2 others(15): Show |
a0001a0002a0007 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0010others(10): Show | a0001c0001t0003g0085 a0001c0001t0003g0102 a0001c0001t0009g0054 others(15): Show |
18 | 95 | 0.1895 | 198 | c.101 others(217): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1464490 | G | GCAGTCAC others(191): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02735.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0017a0001c0001t0025others(2): Show | a0001c0001t0001g0078 a0001c0001t0017g0030 a0001c0001t0025g0036 others(3): Show |
6 | 104 | 0.0577 | 198 | c.101 others(217): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADGRB1_chr8_142444649_142550007 | 142520398 | G | GTTGGTGA others(191): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00639.hp2 others(14): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0030others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0094 others(14): Show |
17 | 307 | 0.0554 | 198 | c.292 others(215): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 19/30 | chr8 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4735256 | T | TACATATA others(191): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0112 | 1 | 417 | 0.0024 | 198 | c.151 others(215): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56406060 | G | GGGGGAGA others(191): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 36 | 0.0278 | 198 | c.667 others(213): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56406060 | G | GGGGGAGA others(191): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp1 others(49): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0002g0001 a0001c0001t0002g0046 a0001c0001t0002g0051 others(48): Show |
52 | 87 | 0.5977 | 198 | c.667 others(213): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56406060 | G | GGGGGAGA others(191): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 36 | 0.0278 | 198 | c.667 others(213): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56406060 | G | GGGGGAGA others(191): Show |
intron_variant | MODIFIER | NA18948.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0085 a0001c0001t0008g0084 |
2 | 37 | 0.0541 | 198 | c.667 others(213): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56406060 | G | GGGGGAGA others(191): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0131 | 1 | 36 | 0.0278 | 198 | c.667 others(213): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ANKS1B_chr12_98738974_99989936 | 99139343 | T | TTCCCTCC others(191): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0015 | 1 | 4 | 0.2500 | 198 | c.252 others(219): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 15/26 | chr12 | TogoVar |