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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPAAR_chr9_35904490_35916686 | 35913507 | T | TGTGTATT others(627): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 418 | 0.0024 | 634 | c.*28 others(645): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 1822 | chr9 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(627): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 80 | 0.0125 | 634 | c.*64 others(645): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(627): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 80 | 0.0125 | 634 | c.*64 others(645): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(627): Show |
downstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 80 | 0.0125 | 634 | c.*64 others(645): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(627): Show |
downstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 80 | 0.0125 | 634 | c.*64 others(645): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(627): Show |
downstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 80 | 0.0125 | 634 | c.*64 others(645): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(627): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0033 others(1): Show |
9 | 88 | 0.1023 | 634 | c.*64 others(645): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(627): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 80 | 0.0125 | 634 | c.*64 others(645): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(627): Show |
downstream_gene_variant | MODIFIER | NA18971.hp2 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 81 | 0.0247 | 634 | c.*64 others(645): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(627): Show |
downstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 80 | 0.0125 | 634 | c.*64 others(645): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(627): Show |
downstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008 | 1 | 80 | 0.0125 | 634 | c.*64 others(645): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(627): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 80 | 0.0125 | 634 | c.*64 others(645): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(627): Show |
downstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 80 | 0.0125 | 634 | c.*64 others(645): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(627): Show |
downstream_gene_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 80 | 0.0125 | 634 | c.*64 others(645): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(627): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 80 | 0.0125 | 634 | c.*64 others(645): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(627): Show |
downstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 80 | 0.0125 | 634 | c.*64 others(645): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(627): Show |
downstream_gene_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 80 | 0.0125 | 634 | c.*64 others(645): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 47128213 | C | CCTCCCCT others(627): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 106 | 0.0094 | 634 | c.142 others(655): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
THEG_chr19_356747_381026 | 376848 | C | CTGTGCCC others(627): Show |
upstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 213 | 0.0047 | 634 | c.-87 others(643): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 823 | chr19 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(627): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 158 | 0.0063 | 634 | c.924 others(651): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(627): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 158 | 0.0063 | 634 | c.924 others(651): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TMEM185A_chrX_149591556_149636792 | 149605335 | G | GGCCTCCC others(627): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 256 | 0.0039 | 634 | c.424 others(651): Show |
TMEM185A | ENSG00000269556.9 | transcript | ENST00000600449.8 | protein_coding | 3/6 | chrX | TogoVar | |||||||
TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(627): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0058 | 1 | 8 | 0.1250 | 634 | c.424 others(651): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TRIML1_chr4_188134441_188152743 | 188152453 | A | AGGGTGAG others(627): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 150 | 0.0067 | 634 | c.*50 others(645): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4711 | chr4 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(627): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0054 | 1 | 87 | 0.0115 | 634 | c.41- others(651): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(627): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0006 | 1 | 44 | 0.0227 | 634 | c.-1- others(651): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(627): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0152 | 1 | 44 | 0.0227 | 634 | c.-1- others(651): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(627): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0090 | 1 | 9 | 0.1111 | 634 | c.4-1 others(647): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1065184 | T | TTGTTATG others(628): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18962.hp1 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010 | a0001c0001t0006g0205 a0001c0001t0006g0234 a0001c0001t0010g0315 |
3 | 319 | 0.0094 | 635 | c.118 others(654): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100276412 | G | GGTGGGAG others(628): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02080.hp1 HG02129.hp2 others(2): Show |
a0001a0003a0005 | a0001c0002a0001c0005a0003c0009others(2): Show | a0001c0002t0011a0001c0005t0005a0003c0009t0003others(2): Show | a0001c0002t0011g0160 a0001c0005t0005g0104 a0003c0009t0003g0043 others(2): Show |
5 | 220 | 0.0227 | 635 | c.789 others(652): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 4/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100276412 | G | GGTGGGAG others(628): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01257.hp2 HG01258.hp2 others(2): Show |
a0002a0004a0005 | a0002c0001a0002c0011a0004c0030others(1): Show | a0002c0001t0036a0002c0011t0039a0004c0030t0001others(1): Show | a0002c0001t0036g0003 a0002c0011t0039g0013 a0004c0030t0001g0214 others(2): Show |
5 | 220 | 0.0227 | 635 | c.789 others(652): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 4/21 | chr15 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 398183 | T | TCCTGACC others(628): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0009 | a0001c0009t0055 | a0001c0009t0055g0104 | 1 | 264 | 0.0038 | 635 | c.352 others(654): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(628): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0000 | 1 | 10 | 0.1000 | 635 | c.*10 others(648): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(628): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0000 | 1 | 10 | 0.1000 | 635 | c.*10 others(648): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687476 | C | CCCCGTGA others(628): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0230 | 1 | 233 | 0.0043 | 635 | c.-18 others(646): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1631 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687652 | C | CCCCGTGA others(628): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0216 | 1 | 191 | 0.0052 | 635 | c.-20 others(646): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1807 | chr8 | TogoVar | |||||||
CACNA1I_chr22_39565753_39694735 | 39596214 | T | TGGGCAGG others(628): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 |
a0001 | a0001c0009a0001c0026 | a0001c0009t0007a0001c0026t0051 | a0001c0009t0007g0135 a0001c0026t0051g0169 |
2 | 150 | 0.0133 | 635 | c.237 others(652): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72114267 | G | GGGAGTAA others(628): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 142 | 0.0070 | 635 | c.245 others(652): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72114309 | G | GAAGGGAA others(628): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 95 | 0.0105 | 635 | c.245 others(652): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255222 | A | ATATATAT others(628): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0260 | 1 | 94 | 0.0106 | 635 | c.907 others(650): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(628): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0126 | 1 | 12 | 0.0833 | 635 | c.-45 others(656): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(628): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0054 | a0001c0002t0054g0193 | 1 | 2 | 0.5000 | 635 | c.162 others(656): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2705509 | A | ATATATAA others(628): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0048 | 1 | 42 | 0.0238 | 635 | c.56- others(652): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 4/24 | chr3 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098080 | A | AATAAATA others(628): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 119 | 0.0084 | 635 | c.181 others(654): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110481318 | C | CTCCGTTG others(628): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0048 | 1 | 316 | 0.0032 | 635 | c.275 others(652): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COPG2_chr7_130501238_130673748 | 130591387 | A | AAGGAGGT others(628): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0088 | 1 | 102 | 0.0098 | 635 | c.737 others(654): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 9/23 | chr7 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(628): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0138 | 1 | 83 | 0.0120 | 635 | c.724 others(654): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DNAJC4_chr11_64225548_64239281 | 64237115 | G | GGGAGAGG others(628): Show |
downstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 328 | 0.0030 | 635 | c.*29 others(646): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2835 | chr11 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619070 | T | TGCTCCCC others(628): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 200 | 0.0050 | 635 | c.-10 others(654): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26005387 | A | ATATAATT others(628): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 92 | 0.0109 | 635 | c.551 others(654): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar |