| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HOMEZ_chr14_23267422_23291132 | 23280710 | T | TTTTATTT others(718): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0003 | a0003c0003 | a0003c0003t0037 | a0003c0003t0037g0108 | 1 | 394 | 0.0025 | 725 | c.41- others(740): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(718): Show |
upstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 323 | 0.0031 | 725 | c.-21 others(736): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
| IGSF9B_chr11_133891438_133961968 | 133932577 | G | GACAGACA others(718): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0336 | 1 | 362 | 0.0028 | 725 | c.968 others(740): Show |
IGSF9B | ENSG00000080854.16 | transcript | ENST00000533871.8 | protein_coding | 7/19 | chr11 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(718): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03654.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0285a0002c0002t0002g0289 | 2 | 312 | 0.0064 | 725 | c.-41 others(740): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(718): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 312 | 0.0032 | 725 | c.-41 others(740): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KIF25_chr6_167992671_168050091 | 167997208 | G | GGGGGCGG others(718): Show |
upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 375 | 0.0027 | 725 | c.-22 others(736): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 462 | chr6 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124471471 | A | ATATTTTA others(718): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 260 | 0.0039 | 725 | c.125 others(742): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LMF1_chr16_848634_975984 | 858998 | A | ACGGGACG others(718): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057a0001c0002t0001g0058 | 2 | 294 | 0.0068 | 725 | c.153 others(744): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(718): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 9 | 398 | 0.0226 | 725 | c.-42 others(736): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | ||||||
| MED16_chr19_862963_898187 | 871891 | C | CGGGGAGG others(718): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0007 | a0007c0019 | a0007c0019t0001 | a0007c0019t0001g0017 | 1 | 56 | 0.0179 | 725 | c.209 others(740): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | ||||||
| MED27_chr9_131855112_132084867 | 131964326 | G | GAGGTGAT others(718): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 274 | 0.0037 | 725 | c.480 others(744): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 3/7 | chr9 | TogoVar | ||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(718): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0220 | 1 | 272 | 0.0037 | 725 | c.250 others(740): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| MOGAT3_chr7_101190007_101206036 | 101191958 | G | GGGAGGCC others(718): Show |
downstream_gene_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 438 | 0.0023 | 725 | c.*39 others(736): Show |
MOGAT3 | ENSG00000106384.12 | transcript | ENST00000223114.9 | protein_coding | 3048 | chr7 | TogoVar | ||||||
| MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(718): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0127 | 1 | 140 | 0.0071 | 725 | c.114 others(744): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(718): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 | 1 | 140 | 0.0071 | 725 | c.114 others(744): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MRPL28_chr16_361969_375538 | 370388 | C | CCCCTACC others(718): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00673.hp2 others(19): Show |
a0002 | a0002c0003a0002c0006 | a0002c0003t0001a0002c0006t0001 | a0002c0003t0001g0004a0002c0003t0001g0158a0002c0003t0001g0159others(2): Show | 22 | 394 | 0.0558 | 725 | c.-8+ others(738): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
| NKAIN2_chr6_123798865_124830640 | 124687570 | T | TTCCATAT others(718): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0027 | 1 | 66 | 0.0152 | 725 | c.474 others(744): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | chr6 | TogoVar | ||||||
| PGAP6_chr16_365788_386978 | 370388 | C | CCCCTACC others(718): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00673.hp2 others(22): Show |
a0002a0020 | a0002c0002a0020c0013 | a0002c0002t0001a0002c0002t0004a0002c0002t0018others(2): Show | a0002c0002t0001g0003a0002c0002t0001g0018a0002c0002t0001g0019others(10): Show | 25 | 376 | 0.0665 | 725 | c.*15 others(736): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 399 | chr16 | TogoVar | ||||||
| RBFOX3_chr17_79084345_79616051 | 79555282 | A | AGTGGTGG others(718): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0135 | 1 | 154 | 0.0065 | 725 | c.-32 others(746): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
| RBFOX3_chr17_79084345_79616051 | 79555282 | A | AGTGGTGG others(718): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0062 | 1 | 154 | 0.0065 | 725 | c.-32 others(746): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
| RPA3_chr7_7631518_7723607 | 7679103 | A | ATTTATTT others(718): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 308 | 0.0033 | 725 | c.-75 others(744): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| RPA3_chr7_7631518_7723607 | 7679116 | G | GTTTATAA others(718): Show |
intron_variant | MODIFIER | NA18999.hp2 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0020 | 2 | 308 | 0.0065 | 725 | c.-75 others(744): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| RPS21_chr20_62382103_62393520 | 62382245 | G | GTGATGGT others(718): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 2 | 412 | 0.0049 | 725 | c.-49 others(736): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4857 | chr20 | TogoVar | ||||||
| RUNX1_chr21_34782801_35054302 | 34931569 | A | ATGTATAC others(718): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 170 | 0.0059 | 725 | c.59- others(742): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | ||||||
| SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(718): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0006 | 1 | 150 | 0.0067 | 725 | c.77- others(742): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(718): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 158 | 0.0063 | 725 | c.22+ others(742): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SHOX_chrX_625791_656584 | 626115 | G | GTCTCTCT others(718): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0178 | a0001c0001t0024g0160a0001c0001t0178g0159 | 2 | 220 | 0.0091 | 725 | c.-47 others(736): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4675 | chrX | TogoVar | ||||||
| SHROOM3_chr4_76430229_76788253 | 76608743 | T | TAGCATAG others(718): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0164 | 1 | 218 | 0.0046 | 725 | c.323 others(744): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SLC25A42_chr19_19058994_19118030 | 19116447 | T | TCAGCACT others(718): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 HG03654.hp1 HG04184.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008a0001c0001t0002g0021a0001c0001t0002g0235others(3): Show | 6 | 316 | 0.0190 | 725 | c.*55 others(736): Show |
SLC25A42 | ENSG00000181035.14 | transcript | ENST00000318596.8 | protein_coding | 3418 | chr19 | TogoVar | ||||||
| SLC25A42_chr19_19058994_19118030 | 19116447 | T | TCAGCACT others(718): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 316 | 0.0032 | 725 | c.*55 others(736): Show |
SLC25A42 | ENSG00000181035.14 | transcript | ENST00000318596.8 | protein_coding | 3418 | chr19 | TogoVar | ||||||
| SLC25A42_chr19_19058994_19118030 | 19116447 | T | TCAGCACT others(718): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0039 | 1 | 316 | 0.0032 | 725 | c.*55 others(736): Show |
SLC25A42 | ENSG00000181035.14 | transcript | ENST00000318596.8 | protein_coding | 3418 | chr19 | TogoVar | ||||||
| SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(718): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 725 | c.*12 others(736): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | ||||||
| SRXN1_chr20_641615_658200 | 642261 | G | GGGGGGGG others(718): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 422 | 0.0024 | 725 | c.*64 others(736): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4353 | chr20 | TogoVar | ||||||
| TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(718): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0226 | 1 | 258 | 0.0039 | 725 | c.113 others(744): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| TMEM161A_chr19_19114169_19143478 | 19116447 | T | TCAGCACT others(718): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 HG03654.hp1 HG04184.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0005a0001c0004t0002 | a0001c0001t0002g0142a0001c0001t0005g0014a0001c0001t0005g0188others(1): Show | 4 | 352 | 0.0114 | 725 | c.*34 others(736): Show |
TMEM161A | ENSG00000064545.15 | transcript | ENST00000162044.14 | protein_coding | 2721 | chr19 | TogoVar | ||||||
| TMEM161A_chr19_19114169_19143478 | 19116447 | T | TCAGCACT others(718): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 352 | 0.0028 | 725 | c.*34 others(736): Show |
TMEM161A | ENSG00000064545.15 | transcript | ENST00000162044.14 | protein_coding | 2721 | chr19 | TogoVar | ||||||
| TMEM161A_chr19_19114169_19143478 | 19116447 | T | TCAGCACT others(718): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0012 | a0001c0012t0013 | a0001c0012t0013g0190 | 1 | 352 | 0.0028 | 725 | c.*34 others(736): Show |
TMEM161A | ENSG00000064545.15 | transcript | ENST00000162044.14 | protein_coding | 2721 | chr19 | TogoVar | ||||||
| TMPRSS2_chr21_41459305_41513158 | 41474545 | G | GAGGGGGT others(718): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0275 | 1 | 382 | 0.0026 | 725 | c.728 others(742): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | ||||||
| TNS1_chr2_217794791_218007995 | 217805592 | C | CCACCACA others(718): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(105): Show |
a0001a0002a0003others(19): Show | a0001c0002a0001c0110a0002c0001others(49): Show | a0001c0002t0007a0001c0110t0007a0002c0001t0001others(86): Show | a0001c0002t0007g0167a0001c0110t0007g0004a0002c0001t0001g0017others(105): Show | 108 | 244 | 0.4426 | 725 | c.537 others(742): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 32/32 | chr2 | TogoVar | ||||||
| TNS1_chr2_217794791_218007995 | 217805592 | C | CCACCACA others(718): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0001 | a0002c0001t0013 | a0002c0001t0013g0099 | 1 | 244 | 0.0041 | 725 | c.537 others(742): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 32/32 | chr2 | TogoVar | ||||||
| TOP1MT_chr8_143304324_143339880 | 143321834 | A | ACACGCCA others(718): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02615.hp1 others(4): Show |
a0002a0004a0017 | a0002c0004a0004c0007a0017c0035 | a0002c0004t0001a0004c0007t0001a0017c0035t0001 | a0002c0004t0001g0043a0002c0004t0001g0097a0002c0004t0001g0098others(4): Show | 7 | 430 | 0.0163 | 725 | c.961 others(740): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
| TRIM2_chr4_153199443_153344317 | 153222058 | A | AAGGAAGG others(718): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0007 | 1 | 268 | 0.0037 | 725 | c.30+ others(742): Show |
TRIM2 | ENSG00000109654.16 | transcript | ENST00000338700.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| UMAD1_chr7_7635752_7884223 | 7679049 | A | ATTTATTT others(718): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0057 | 1 | 250 | 0.0040 | 725 | c.82+ others(740): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| UMAD1_chr7_7635752_7884223 | 7679103 | A | ATTTATTT others(718): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0058 | 1 | 250 | 0.0040 | 725 | c.82+ others(740): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| UMAD1_chr7_7635752_7884223 | 7679116 | G | GTTTATAA others(718): Show |
intron_variant | MODIFIER | NA18999.hp2 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0169a0001c0001t0004g0173 | 2 | 250 | 0.0080 | 725 | c.82+ others(740): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(718): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 218 | 0.0046 | 725 | c.55+ others(740): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | ||||||
| ZNF30_chr19_34921903_34950168 | 34923077 | A | ATATATAA others(718): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 NA18994.hp2 |
a0004a0008 | a0004c0004a0008c0009 | a0004c0004t0005a0008c0009t0009 | a0004c0004t0005g0016a0008c0009t0009g0103 | 2 | 412 | 0.0049 | 725 | c.-42 others(736): Show |
ZNF30 | ENSG00000168661.15 | transcript | ENST00000601142.2 | protein_coding | 3825 | chr19 | TogoVar | ||||||
| AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(719): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0000 | 1 | 416 | 0.0024 | 726 | c.*10 others(739): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
| AP2A2_chr11_920870_1017240 | 980430 | C | CTGCCCGG others(719): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02717.hp2 HG03209.hp1 |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0004a0003c0007t0004 | a0001c0002t0004g0229a0001c0002t0004g0253a0003c0007t0004g0225 | 3 | 268 | 0.0112 | 726 | c.604 others(741): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ARHGAP19_chr10_97217179_97297637 | 97251784 | A | AAGGGAAG others(719): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0063 | 1 | 242 | 0.0041 | 726 | c.927 others(743): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar |