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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAX1_chr20_21700664_21723481 | 21721630 | T | TTACATAT others(457): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 400 | 0.0025 | 464 | c.*70 others(475): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3150 | chr20 | TogoVar | |||||||
PCSK5_chr9_75885673_76367975 | 76063865 | G | GTGGCCGG others(457): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0003 | a0003c0010 | a0003c0010t0011 | a0003c0010t0011g0086 | 1 | 166 | 0.0060 | 464 | c.633 others(481): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 76063964 | C | CCCCCCCA others(457): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02559.hp2 |
a0002a0006 | a0002c0009a0002c0047a0006c0012 | a0002c0009t0038a0002c0047t0045a0006c0012t0046 | a0002c0009t0038g0070 a0002c0047t0045g0123 a0006c0012t0046g0161 |
3 | 166 | 0.0181 | 464 | c.633 others(481): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 571108 | T | TAGCCTGT others(457): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0118 | 1 | 408 | 0.0025 | 464 | c.-10 others(481): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 571108 | T | TAGCCTGT others(457): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0120 | 1 | 408 | 0.0025 | 464 | c.-10 others(481): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 571108 | T | TGTGTCTG others(457): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03471.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0180 a0001c0002t0006g0181 |
2 | 408 | 0.0049 | 464 | c.-10 others(481): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 398691 | G | GTCACCTC others(457): Show |
intron_variant | MODIFIER | NA19007.hp2 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 a0001c0001t0001g0064 |
2 | 216 | 0.0093 | 464 | c.106 others(481): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLCL2_chr3_16879955_17095604 | 17063252 | C | CCCTTCCT others(457): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 | 1 | 250 | 0.0040 | 464 | c.309 others(483): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLXNA4_chr7_132118340_132581470 | 132189032 | G | GGAAAGGA others(457): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 88 | 0.0114 | 464 | c.285 others(483): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 14/31 | chr7 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(457): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0018 | a0018c0036 | a0018c0036t0001 | a0018c0036t0001g0051 | 1 | 188 | 0.0053 | 464 | c.147 others(481): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325275 | A | AGAGTGAG others(457): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0057 | 1 | 398 | 0.0025 | 464 | c.194 others(481): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325275 | A | AGAGTGAG others(457): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0058 | 1 | 398 | 0.0025 | 464 | c.194 others(481): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
RAC2_chr22_37220270_37249269 | 37227202 | C | CCTCCCAC others(457): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 448 | 0.0022 | 464 | c.449 others(479): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(457): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 304 | 0.0033 | 464 | c.66+ others(479): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(457): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01175.hp2 HG01433.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0032 others(2): Show |
5 | 304 | 0.0165 | 464 | c.66+ others(479): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RFLNA_chr12_124290093_124321024 | 124320025 | G | GGATGACA others(457): Show |
downstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0185 | 1 | 388 | 0.0026 | 464 | c.*55 others(475): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 4002 | chr12 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547135 | G | GTAAATTA others(457): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0272 |
2 | 334 | 0.0060 | 464 | c.45- others(479): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547135 | G | GTAAATTA others(457): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 334 | 0.0030 | 464 | c.45- others(479): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547135 | G | GTAAATTA others(457): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0233 | 1 | 334 | 0.0030 | 464 | c.45- others(479): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RNF17_chr13_24759169_24884921 | 24881852 | C | CTATATAG others(457): Show |
downstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 426 | 0.0024 | 464 | c.*21 others(475): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 1932 | chr13 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59750591 | T | TATATCTA others(457): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 172 | 0.0058 | 464 | c.242 others(481): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85088046 | G | GTATTAAT others(457): Show |
downstream_gene_variant | MODIFIER | NA19068.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0117 | 1 | 232 | 0.0043 | 464 | c.*43 others(475): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4237 | chrX | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1289785 | C | CCGTGTCT others(457): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 290 | 0.0035 | 464 | c.166 others(481): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 431544 | C | CAGATAGA others(457): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0005 | a0005c0009 | a0005c0009t0014 | a0005c0009t0014g0040 | 1 | 212 | 0.0047 | 464 | c.111 others(481): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75280434 | T | TTATATAT others(457): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 156 | 0.0064 | 464 | c.176 others(481): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
SLC45A1_chr1_8313114_8349165 | 8322304 | A | ATGGGCGG others(457): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 388 | 0.0026 | 464 | c.-24 others(481): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827184 | A | ATAGTTTA others(457): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0060 | 1 | 302 | 0.0033 | 464 | c.12+ others(479): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24190154 | T | TATAATGA others(457): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0251 | 1 | 356 | 0.0028 | 464 | c.-11 others(485): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4462494 | C | CACCCACC others(457): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0142 | 1 | 362 | 0.0028 | 464 | c.111 others(483): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4462498 | C | CACCCACC others(457): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0011 | a0011c0042 | a0011c0042t0003 | a0011c0042t0003g0314 | 1 | 362 | 0.0028 | 464 | c.111 others(483): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46859244 | C | CGTGCCCC others(457): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03516.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0002c0003t0009 | a0001c0001t0005g0002 a0002c0003t0009g0034 |
2 | 112 | 0.0179 | 464 | c.638 others(483): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121193174 | T | TAGATTGA others(457): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0004 | 1 | 348 | 0.0029 | 464 | c.*23 others(475): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 1685 | chr11 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747993 | T | TGGGAGGC others(457): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0103 | 1 | 314 | 0.0032 | 464 | c.189 others(479): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMPRSS13_chr11_117895641_117934402 | 117926048 | G | GCACACCT others(457): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02896.hp1 NA18522.hp1 others(1): Show |
a0001a0011 | a0001c0001a0011c0046 | a0001c0001t0002a0001c0001t0051a0011c0046t0052 | a0001c0001t0002g0015 a0001c0001t0051g0102 a0011c0046t0052g0098 |
4 | 462 | 0.0087 | 464 | c.21+ others(479): Show |
TMPRSS13 | ENSG00000137747.16 | transcript | ENST00000524993.6 | protein_coding | 1/12 | chr11 | TogoVar | |||||||
TOLLIP_chr11_1269371_1314632 | 1294476 | C | CCCGCGTG others(457): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0258 | 1 | 348 | 0.0029 | 464 | c.183 others(481): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
TPCN2_chr11_69043932_69095597 | 69077105 | T | TTGCCCTC others(457): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(73): Show |
a0002a0013a0019others(4): Show | a0002c0002a0002c0018a0002c0019others(7): Show | a0002c0002t0001a0002c0002t0023a0002c0002t0026others(14): Show | a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 others(54): Show |
76 | 404 | 0.1881 | 464 | c.123 others(483): Show |
TPCN2 | ENSG00000162341.18 | transcript | ENST00000294309.8 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TPK1_chr7_144446941_144841053 | 144780558 | T | TATATTAT others(457): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 118 | 0.0085 | 464 | c.44- others(481): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
TRPC6_chr11_101446564_101589007 | 101558386 | C | CATGTATA others(457): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0233 | 1 | 252 | 0.0040 | 464 | c.170 others(483): Show |
TRPC6 | ENSG00000137672.13 | transcript | ENST00000344327.8 | protein_coding | 1/12 | chr11 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870350 | A | ACCCCATA others(457): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0109 | 1 | 338 | 0.0030 | 464 | c.*35 others(483): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 510333 | T | TCGCCCCT others(457): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG02738.hp2 others(1): Show |
a0002a0004 | a0002c0003a0004c0008 | a0002c0003t0036a0002c0003t0144a0002c0003t0148others(1): Show | a0002c0003t0036g0176 a0002c0003t0144g0215 a0002c0003t0148g0174 others(1): Show |
4 | 232 | 0.0172 | 464 | c.*87 others(475): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 22/22 | 8794 | chr17 | TogoVar | ||||||
VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(457): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0213 | 1 | 246 | 0.0041 | 464 | c.53- others(477): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(457): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0079 | 1 | 246 | 0.0041 | 464 | c.53- others(477): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
XG_chrX_2747040_2821500 | 2773646 | C | CGAAGGAA others(457): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0009 | 1 | 322 | 0.0031 | 464 | c.104 others(481): Show |
XG | ENSG00000124343.14 | transcript | ENST00000644266.2 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
XG_chrX_2747040_2821500 | 2773777 | A | AGGAAGGA others(457): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0190 | 1 | 322 | 0.0031 | 464 | c.104 others(479): Show |
XG | ENSG00000124343.14 | transcript | ENST00000644266.2 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ZNF30_chr19_34921903_34950168 | 34923077 | A | ATATATAA others(457): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01123.hp2 others(9): Show |
a0003a0004a0005others(1): Show | a0003c0003a0004c0004a0005c0005others(1): Show | a0003c0003t0002a0004c0004t0005a0005c0005t0002others(1): Show | a0003c0003t0002g0002 a0003c0003t0002g0021 a0003c0003t0002g0055 others(7): Show |
12 | 412 | 0.0291 | 464 | c.-42 others(475): Show |
ZNF30 | ENSG00000168661.15 | transcript | ENST00000601142.2 | protein_coding | 3825 | chr19 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370841 | C | CATATATC others(457): Show |
upstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 350 | 0.0029 | 464 | c.-36 others(475): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3527 | chr10 | TogoVar | |||||||
ZNF681_chr19_23734195_23763891 | 23753347 | T | CGAGATTG others(457): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02886.hp2 HG03471.hp1 others(1): Show |
a0007a0008 | a0007c0008a0008c0009 | a0007c0008t0007a0008c0009t0007 | a0007c0008t0007g0049 a0007c0008t0007g0211 a0008c0009t0007g0213 |
4 | 394 | 0.0102 | 464 | c.226 others(481): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
ZNF880_chr19_52364923_52390795 | 52384797 | A | AACCTTAC others(457): Show |
frameshift_variant others(1): Show |
HIGH | HG04228.hp1 | a0004 | a0004c0017 | a0004c0017t0001 | a0004c0017t0001g0020 | 1 | 458 | 0.0022 | 464 | c.123 others(473): Show |
p.Cys others(5): Show |
ZNF880 | ENSG00000221923.9 | transcript | ENST00000422689.3 | protein_coding | 4/4 | 1281/2258 | 1238/1734 | 413/577 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ZNF880_chr19_52364923_52390795 | 52384797 | A | AACCTTAC others(457): Show |
frameshift_variant others(1): Show |
HIGH | HG02015.hp1 HG02071.hp1 NA18941.hp1 others(10): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0020 a0004c0005t0001g0021 a0004c0005t0001g0091 others(7): Show |
13 | 458 | 0.0284 | 464 | c.123 others(473): Show |
p.Cys others(5): Show |
ZNF880 | ENSG00000221923.9 | transcript | ENST00000422689.3 | protein_coding | 4/4 | 1281/2258 | 1238/1734 | 413/577 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ABCA13_chr7_48166458_48652497 | 48443861 | T | TCCTCTTT others(458): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02523.hp2 HG03492.hp2 others(6): Show |
a0001a0003a0007others(3): Show | a0001c0001a0001c0010a0003c0004others(4): Show | a0001c0001t0001a0001c0010t0001a0003c0004t0001others(4): Show | a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0010t0001g0066 others(6): Show |
9 | 178 | 0.0506 | 465 | c.125 others(488): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |