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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYM_chr18_49031387_49465645 | 49067438 | A | AGGATGAT others(1005): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0167 | 1 | 288 | 0.0035 | 1012 | c.202 others(1033): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 17/17 | chr18 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 659649 | G | GCATCCTG others(1005): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248 | 1 | 313 | 0.0032 | 1012 | c.*49 others(1023): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4550 | chr8 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706317 | G | GATACATA others(1005): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0163 | 1 | 276 | 0.0036 | 1012 | c.228 others(1029): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706317 | G | GATACATA others(1005): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0196 | 1 | 353 | 0.0028 | 1012 | c.-50 others(1023): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4883 | chr4 | TogoVar | |||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1005): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03041.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 others(1): Show |
4 | 140 | 0.0286 | 1012 | c.-14 others(1031): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1005): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0203 | 1 | 137 | 0.0073 | 1012 | c.-14 others(1031): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435561 | A | AGGAAGGG others(1005): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0031 | 1 | 79 | 0.0127 | 1012 | c.-16 others(1033): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294666 | A | ACTTATCC others(1005): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 | 1 | 283 | 0.0035 | 1012 | c.105 others(1029): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(1005): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 13 | 0.0769 | 1012 | c.978 others(1029): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MFSD8_chr4_127912805_127970173 | 127926315 | A | ATCCAGGC others(1005): Show |
intron_variant | MODIFIER | HG01168.hp2 HG02280.hp2 HG02451.hp1 others(3): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0022a0001c0009t0014 | a0001c0001t0001g0022 a0001c0001t0001g0307 a0001c0001t0001g0308 others(2): Show |
6 | 128 | 0.0469 | 1012 | c.999 others(1029): Show |
MFSD8 | ENSG00000164073.11 | transcript | ENST00000641686.2 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
MFSD8_chr4_127912805_127970173 | 127926315 | A | ATCCAGGC others(1005): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(122): Show |
a0001a0003a0005 | a0001c0001a0001c0005a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0016others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(107): Show |
125 | 247 | 0.5061 | 1012 | c.999 others(1029): Show |
MFSD8 | ENSG00000164073.11 | transcript | ENST00000641686.2 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
MFSD8_chr4_127912805_127970173 | 127926315 | A | ATCCAGGC others(1005): Show |
intron_variant | MODIFIER | HG00140.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 a0001c0001t0001g0160 |
2 | 124 | 0.0161 | 1012 | c.999 others(1029): Show |
MFSD8 | ENSG00000164073.11 | transcript | ENST00000641686.2 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195816679 | C | CCAGCCTG others(1005): Show |
upstream_gene_variant | MODIFIER | NA19074.hp1 | a0117 | a0117c0150 | a0117c0150t0003 | a0117c0150t0003g0215 | 1 | 212 | 0.0047 | 1012 | c.-48 others(1023): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 4751 | chr3 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37848243 | A | AAGAAGAA others(1005): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 373 | 0.0027 | 1012 | c.-72 others(1021): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 353 | chr7 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132149300 | C | CGCCGCCT others(1005): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 275 | 0.0036 | 1012 | c.901 others(1027): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149666 | T | TACCACAC others(1005): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 184 | 0.0054 | 1012 | c.901 others(1027): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150747 | C | CGCCGCCT others(1005): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0114 | 1 | 190 | 0.0053 | 1012 | c.902 others(1027): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150747 | C | CGCCGCCT others(1005): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 190 | 0.0053 | 1012 | c.902 others(1027): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535833 | A | AGGGGGGA others(1005): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0158 | 1 | 285 | 0.0035 | 1012 | c.140 others(1029): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1005): Show |
downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 135 | 0.0074 | 1012 | c.*31 others(1023): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1005): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG01099.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 136 | 0.0147 | 1012 | c.*31 others(1023): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(1005): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 2 | 0.5000 | 1012 | c.273 others(1027): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(1005): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 2 | 0.5000 | 1012 | c.273 others(1027): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(1005): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 2 | 0.5000 | 1012 | c.273 others(1027): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(1005): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02970.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0028 a0001c0001t0001g0070 a0001c0002t0001g0044 |
4 | 5 | 0.8000 | 1012 | c.273 others(1027): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(1005): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01884.hp1 HG02055.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0015 a0001c0001t0001g0071 a0001c0001t0001g0085 others(2): Show |
17 | 18 | 0.9444 | 1012 | c.273 others(1027): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(1005): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(108): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0016 others(11): Show |
111 | 112 | 0.9911 | 1012 | c.273 others(1027): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(1005): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 2 | 0.5000 | 1012 | c.273 others(1027): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(1005): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02922.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0064 |
3 | 4 | 0.7500 | 1012 | c.273 others(1027): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1005): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01123.hp1 |
a0013a0028 | a0013c0014a0028c0033 | a0013c0014t0001a0028c0033t0001 | a0013c0014t0001g0078 a0028c0033t0001g0010 |
2 | 25 | 0.0800 | 1012 | c.371 others(1029): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1005): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0026 | a0026c0036 | a0026c0036t0001 | a0026c0036t0001g0019 | 1 | 24 | 0.0417 | 1012 | c.371 others(1029): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PON3_chr7_95354872_95401375 | 95371278 | T | TGGATAGG others(1005): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02970.hp1 HG03209.hp1 others(4): Show |
a0001a0008 | a0001c0004a0008c0011 | a0001c0004t0001a0008c0011t0001 | a0001c0004t0001g0010 a0001c0004t0001g0030 a0008c0011t0001g0064 |
7 | 359 | 0.0195 | 1012 | c.367 others(1027): Show |
PON3 | ENSG00000105852.11 | transcript | ENST00000265627.10 | protein_coding | 4/8 | chr7 | TogoVar | |||||||
PON3_chr7_95354872_95401375 | 95371278 | T | TGGATAGG others(1005): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0055 | 1 | 353 | 0.0028 | 1012 | c.367 others(1027): Show |
PON3 | ENSG00000105852.11 | transcript | ENST00000265627.10 | protein_coding | 4/8 | chr7 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 355862 | A | AACAGTCG others(1005): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 74 | 0.0135 | 1012 | c.-33 others(1023): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3056 | chr17 | TogoVar | |||||||
SLC19A1_chr21_45507565_45547440 | 45531209 | G | GGGGGAGC others(1005): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 6 | 0.1667 | 1012 | c.949 others(1027): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(1005): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 80 | 0.0125 | 1012 | c.*64 others(1023): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(1005): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 | 1 | 149 | 0.0067 | 1012 | c.*73 others(1023): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
THBS2_chr6_169210785_169258846 | 169242825 | T | TTCCCACC others(1005): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0016 | a0016c0051 | a0016c0051t0001 | a0016c0051t0001g0208 | 1 | 358 | 0.0028 | 1012 | c.695 others(1027): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377575 | T | TCTGTGCC others(1005): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0080 | 1 | 350 | 0.0029 | 1012 | c.-16 others(1023): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1550 | chr19 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(1005): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 87 | 0.0115 | 1012 | c.41- others(1029): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204278 | T | TATGATGA others(1005): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 138 | 0.0072 | 1012 | c.41- others(1029): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1005): Show |
downstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 50 | 0.0200 | 1012 | c.*24 others(1023): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1005): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 149 | 0.0067 | 1012 | c.129 others(1029): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1005): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0263 | 1 | 149 | 0.0067 | 1012 | c.129 others(1029): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1005): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0009 | 1 | 277 | 0.0036 | 1012 | c.129 others(1029): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1005): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 277 | 0.0036 | 1012 | c.129 others(1029): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1005): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0310 | 1 | 277 | 0.0036 | 1012 | c.129 others(1029): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1005): Show |
intron_variant | MODIFIER | HG02148.hp2 NA18940.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0268 |
2 | 278 | 0.0072 | 1012 | c.129 others(1029): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1005): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 277 | 0.0036 | 1012 | c.129 others(1029): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670515 | C | CCCGTGCA others(1005): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0215 | 1 | 385 | 0.0026 | 1012 | c.129 others(1029): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |