| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SVEP1_chr9_110360248_110584741 | 110583956 | CTGATTGA others(778): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0026 | a0026c0148 | a0026c0148t0004 | a0026c0148t0004g0355 | 1 | 362 | 0.0028 | -785 | c.-51 others(11): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 4216 | chr9 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 391356 | CAGGGCCA others(777): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0004 | a0004c0003 | a0004c0003t0007 | a0004c0003t0007g0221 | 1 | 268 | 0.0037 | -784 | c.351 others(19): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
| BCAS1_chr20_53938541_54075594 | 54027111 | GTGGGTGT others(777): Show |
G | intron_variant | MODIFIER | NA19077.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0022 | 1 | 364 | 0.0028 | -784 | c.723 others(16): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar | ||||||
| HDAC4_chr2_239043168_239406020 | 239068972 | GGTGCAAG others(777): Show |
G | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0077 | 1 | 242 | 0.0041 | -784 | c.275 others(18): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 22/26 | chr2 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1991285 | ACCGCTGG others(777): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01496.hp2 NA18963.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0208a0001c0003t0001g0033a0001c0003t0001g0038others(1): Show | 4 | 264 | 0.0152 | -784 | c.141 others(20): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
| NCAM2_chr21_20993409_21548329 | 21479583 | CAAAAAAA others(777): Show |
C | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 132 | 0.0076 | -784 | c.207 others(19): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132149708 | CACACCAC others(777): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0039 | 1 | 294 | 0.0034 | -784 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | ||||||
| SAMD11_chr1_918923_949574 | 934064 | AGGGGAGG others(777): Show |
A | intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0337 | 1 | 434 | 0.0023 | -784 | c.843 others(16): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SLURP2_chr8_142759338_142774828 | 142759899 | ATTTACAG others(777): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(126): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(36): Show | 129 | 446 | 0.2892 | -784 | c.*39 others(11): Show |
SLURP2 | ENSG00000283992.2 | transcript | ENST00000317543.12 | protein_coding | 4438 | chr8 | TogoVar | ||||||
| F11_chr4_186261189_186294681 | 186292800 | CAAAAAAA others(776): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00639.hp1 others(66): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0005a0001c0008others(4): Show | a0001c0002t0002a0001c0002t0008a0001c0005t0002others(6): Show | a0001c0002t0002g0005a0001c0002t0002g0017a0001c0002t0002g0028others(37): Show | 69 | 456 | 0.1513 | -783 | c.*41 others(11): Show |
F11 | ENSG00000088926.15 | transcript | ENST00000403665.7 | protein_coding | 3120 | chr4 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805563 | CCCCTCAG others(776): Show |
C | downstream_gene_variant | MODIFIER | HG01981.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0224 | 1 | 314 | 0.0032 | -783 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1277 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805563 | CCCCTCAG others(776): Show |
C | upstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 319 | 0.0031 | -783 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3629 | chr2 | TogoVar | ||||||
| PRSS33_chr16_2778953_2792560 | 2786674 | CCCCTCCG others(776): Show |
C | intron_variant | MODIFIER | NA19090.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0091 | 1 | 386 | 0.0026 | -783 | c.-58 others(13): Show |
PRSS33 | ENSG00000103355.14 | transcript | ENST00000682474.1 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
| UNC5A_chr5_176805559_176885898 | 176871222 | GCTCACCA others(776): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG02300.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058a0001c0001t0002g0062a0001c0001t0002g0063others(1): Show | 4 | 268 | 0.0149 | -783 | c.886 others(16): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ZNF382_chr19_36600313_36639114 | 36612940 | CGCCACCA others(776): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0201 | 1 | 352 | 0.0028 | -783 | c.232 others(17): Show |
ZNF382 | ENSG00000161298.19 | transcript | ENST00000292928.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1400511 | GTATTGAG others(775): Show |
G | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0011 | 1 | 40 | 0.0250 | -782 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1404290 | TGAGTCGT others(775): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp1 HG01361.hp1 others(7): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0022others(6): Show | a0001c0002t0001g0015a0001c0002t0001g0019a0001c0002t0002g0021others(7): Show | 10 | 40 | 0.2500 | -782 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| F11_chr4_186261189_186294681 | 186292800 | CAAAAAAA others(775): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02622.hp1 others(7): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0015a0001c0006t0004a0001c0006t0006 | a0001c0005t0015g0011a0001c0006t0004g0032a0001c0006t0004g0174others(3): Show | 10 | 456 | 0.0219 | -782 | c.*41 others(11): Show |
F11 | ENSG00000088926.15 | transcript | ENST00000403665.7 | protein_coding | 3120 | chr4 | TogoVar | ||||||
| FOXQ1_chr6_1307098_1319758 | 1318976 | CGGGTGGA others(775): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0000 | 1 | 406 | 0.0025 | -782 | c.*50 others(11): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4219 | chr6 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805539 | AGGGACCT others(775): Show |
A | downstream_gene_variant | MODIFIER | NA19090.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0036 | 1 | 314 | 0.0032 | -782 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1253 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805542 | GACCTCCG others(775): Show |
G | downstream_gene_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0117 | 1 | 314 | 0.0032 | -782 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1256 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805559 | CTCCCCCC others(775): Show |
C | downstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 314 | 0.0032 | -782 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1273 | chr2 | TogoVar | ||||||
| MLPH_chr2_237482251_237560322 | 237544418 | GGGGGACA others(775): Show |
G | intron_variant | MODIFIER | HG02622.hp2 | a0025 | a0025c0039 | a0025c0039t0008 | a0025c0039t0008g0105 | 1 | 286 | 0.0035 | -782 | c.153 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| NEU4_chr2_241804193_241822413 | 241805539 | AGGGACCT others(775): Show |
A | upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 319 | 0.0031 | -782 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3653 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805542 | GACCTCCG others(775): Show |
G | upstream_gene_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0148 | 1 | 319 | 0.0031 | -782 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3650 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805559 | CTCCCCCC others(775): Show |
C | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01496.hp1 others(1): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0007 | a0001c0002t0001a0002c0003t0002a0003c0007t0002 | a0001c0002t0001g0121a0002c0003t0002g0034a0003c0007t0002g0020 | 4 | 319 | 0.0125 | -782 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3633 | chr2 | TogoVar | ||||||
| ADGRA1_chr10_133082924_133136675 | 133135476 | GGGTCTCT others(774): Show |
G | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01256.hp1 |
a0001 | a0001c0006 | a0001c0006t0037 | a0001c0006t0037g0077a0001c0006t0037g0086 | 2 | 368 | 0.0054 | -781 | c.*59 others(11): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 3802 | chr10 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1402575 | CCTCCTTG others(774): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0028 | 1 | 40 | 0.0250 | -781 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1402589 | AGAGTCGT others(774): Show |
A | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 | 1 | 40 | 0.0250 | -781 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| GALNT2_chr1_230062238_230287122 | 230272966 | CTCGCTAT others(774): Show |
C | intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0085 | 1 | 324 | 0.0031 | -781 | c.144 others(18): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MPHOSPH9_chr12_123149215_123238141 | 123174635 | GTGCTGGG others(774): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0170 | 1 | 266 | 0.0038 | -781 | c.245 others(19): Show |
MPHOSPH9 | ENSG00000051825.15 | transcript | ENST00000606320.6 | protein_coding | 16/23 | chr12 | TogoVar | ||||||
| NPSR1_chr7_34653218_34854978 | 34800842 | AGGGAAGA others(774): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG02717.hp1 others(6): Show |
a0001a0003a0018 | a0001c0002a0003c0005a0018c0026 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0002t0001g0015a0001c0002t0001g0016a0001c0002t0002g0120others(6): Show | 9 | 260 | 0.0346 | -781 | c.385 others(19): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | chr7 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686992 | CAGAACAG others(774): Show |
C | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 362 | 0.0028 | -781 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25757945 | ACTCATTC others(773): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG03516.hp2 |
a0006 | a0006c0007a0006c0066 | a0006c0007t0001a0006c0066t0001 | a0006c0007t0001g0037a0006c0066t0001g0032 | 2 | 300 | 0.0067 | -780 | c.654 others(19): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| C1orf159_chr1_1076823_1121089 | 1077299 | GCCGGGAG others(773): Show |
G | downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0116 | 1 | 326 | 0.0031 | -780 | c.*48 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4523 | chr1 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1086419 | GTTGTTGT others(773): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG03209.hp2 HG03516.hp2 |
a0002 | a0002c0002a0002c0007 | a0002c0002t0085a0002c0002t0127a0002c0007t0059 | a0002c0002t0085g0142a0002c0002t0127g0155a0002c0007t0059g0071 | 3 | 162 | 0.0185 | -780 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FOXN3_chr14_89151177_89422233 | 89361833 | CACCACTA others(773): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0037 | 1 | 230 | 0.0044 | -780 | c.544 others(19): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| IFITM3_chr11_314676_325860 | 321661 | TTCACTAT others(773): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0004 | 21 | 31 | 0.6774 | -780 | c.-16 others(10): Show |
IFITM3 | ENSG00000142089.17 | transcript | ENST00000399808.5 | protein_coding | 802 | chr11 | TogoVar | ||||||
| KNG1_chr3_186712359_186749410 | 186734816 | CGACAGAG others(773): Show |
C | intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0226 | 1 | 430 | 0.0023 | -780 | c.930 others(17): Show |
KNG1 | ENSG00000113889.14 | transcript | ENST00000644859.2 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| RNF144B_chr6_18382350_18473870 | 18401856 | CCCCAGGG others(773): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(245): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(60): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0015others(238): Show | 248 | 386 | 0.6425 | -780 | c.165 others(17): Show |
RNF144B | ENSG00000137393.10 | transcript | ENST00000259939.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560505 | TGAGGCTC others(773): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074a0001c0001t0001g0098 | 2 | 180 | 0.0111 | -780 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560806 | GCCCTGAG others(773): Show |
G | intron_variant | MODIFIER | HG02738.hp2 HG04204.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0002 | a0001c0001t0011g0119a0001c0002t0002g0065 | 2 | 180 | 0.0111 | -780 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168561565 | TGGAGGAG others(773): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG01081.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0079a0001c0003t0004g0102 | 2 | 180 | 0.0111 | -780 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1106698 | GCGTGCTG others(773): Show |
G | intron_variant | MODIFIER | HG03225.hp1 HG03453.hp2 HG03471.hp1 |
a0001a0004a0005 | a0001c0002a0004c0014a0005c0006 | a0001c0002t0001a0004c0014t0002a0005c0006t0002 | a0001c0002t0001g0041a0004c0014t0002g0001a0005c0006t0002g0003 | 3 | 190 | 0.0158 | -780 | c.325 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1106794 | GAGTGGAC others(773): Show |
G | intron_variant | MODIFIER | HG02165.hp2 | a0020 | a0020c0032 | a0020c0032t0001 | a0020c0032t0001g0059 | 1 | 190 | 0.0053 | -780 | c.325 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1107782 | TAGTGGAC others(773): Show |
T | intron_variant | MODIFIER | NA18984.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0162 | 1 | 190 | 0.0053 | -780 | c.325 others(18): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| VPS53_chr17_503668_719839 | 505896 | AAGATCAG others(773): Show |
A | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01346.hp2 HG02074.hp1 others(23): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0101a0001c0001t0102a0001c0001t0108others(14): Show | a0001c0001t0101g0200a0001c0001t0102g0220a0001c0001t0108g0148others(23): Show | 26 | 232 | 0.1121 | -780 | c.*12 others(13): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 2771 | chr17 | TogoVar | ||||||
| CBFA2T3_chr16_88869858_88982207 | 88954457 | GCCAAGTG others(772): Show |
G | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0008 | a0001c0008t0014 | a0001c0008t0014g0167 | 1 | 284 | 0.0035 | -779 | c.151 others(19): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132134793 | CGAGTGTG others(772): Show |
C | downstream_gene_variant | MODIFIER | HG02559.hp1 | a0008 | a0008c0010 | a0008c0010t0012 | a0008c0010t0012g0015 | 1 | 334 | 0.0030 | -779 | c.*37 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1800 | chr12 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2280759 | AGAGGGAG others(772): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0009 | 1 | 50 | 0.0200 | -779 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar |