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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AFF2_chrX_148495617_149005663 | 148581231 | T | TACGTGTA others(855): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0159 | 1 | 161 | 0.0062 | 862 | c.48- others(879): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AHRR_chr5_316714_443285 | 318049 | C | CCCTCCCC others(855): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 181 | 0.0055 | 862 | c.-37 others(873): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3664 | chr5 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1833035 | G | GAGAGACA others(855): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0009 | a0001c0009t0051 | a0001c0009t0051g0274 | 1 | 74 | 0.0135 | 862 | c.-48 others(879): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(855): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00733.hp2 HG01496.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0031 others(12): Show |
20 | 46 | 0.4348 | 862 | c.94+ others(877): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112714047 | G | GACCCCTG others(855): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0004 | a0001c0004t0052 | a0001c0004t0052g0033 | 1 | 2 | 0.5000 | 862 | c.39+ others(879): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411129 | C | CCGAGCCG others(855): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0063 | 1 | 218 | 0.0046 | 862 | c.-21 others(873): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1983 | chr19 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2539434 | G | GGCAGGGG others(855): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0028 | a0006c0028t0006 | a0006c0028t0006g0051 | 1 | 104 | 0.0096 | 862 | c.139 others(883): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413554 | A | AATGATGA others(855): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00621.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0001g0133 others(27): Show |
30 | 193 | 0.1554 | 862 | c.92+ others(879): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413554 | A | AATGATGA others(855): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0189 | 1 | 164 | 0.0061 | 862 | c.92+ others(879): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413554 | A | AATGATGA others(855): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0091 | 1 | 164 | 0.0061 | 862 | c.92+ others(879): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(855): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0042 | 1 | 50 | 0.0200 | 862 | c.92+ others(879): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(855): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0110 | 1 | 50 | 0.0200 | 862 | c.92+ others(879): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(855): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0172 others(35): Show |
38 | 87 | 0.4368 | 862 | c.92+ others(879): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(855): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0001t0039a0001c0002t0068 | a0001c0001t0020g0158 a0001c0001t0039g0157 a0001c0002t0068g0021 |
3 | 52 | 0.0577 | 862 | c.92+ others(879): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(855): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0036 | 1 | 50 | 0.0200 | 862 | c.92+ others(879): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(855): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02717.hp2 |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0044 | a0001c0002t0010g0007 a0001c0002t0044g0112 |
2 | 51 | 0.0392 | 862 | c.92+ others(879): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(855): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01099.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0036a0001c0001t0087 | a0001c0001t0002g0126 a0001c0001t0002g0196 a0001c0001t0036g0125 others(1): Show |
4 | 53 | 0.0755 | 862 | c.92+ others(879): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(855): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0121 | 1 | 50 | 0.0200 | 862 | c.92+ others(879): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88894171 | A | ACACACGC others(855): Show |
intron_variant | MODIFIER | NA19004.hp2 NA19005.hp2 NA19088.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0246 a0001c0003t0004g0232 a0001c0003t0004g0233 |
3 | 280 | 0.0107 | 862 | c.380 others(879): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882004 | G | GGGGAGAA others(855): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0160 | 1 | 250 | 0.0040 | 862 | c.303 others(881): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882004 | G | GGGGAGAA others(855): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02738.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0148 a0001c0003t0003g0169 |
2 | 251 | 0.0080 | 862 | c.303 others(881): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(855): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0283 | 1 | 205 | 0.0049 | 862 | c.411 others(879): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(855): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0279 | 1 | 205 | 0.0049 | 862 | c.411 others(879): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888753 | T | TCACCCCT others(855): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0028 | a0028c0062 | a0028c0062t0001 | a0028c0062t0001g0214 | 1 | 156 | 0.0064 | 862 | c.330 others(881): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP97D2_chr13_114174257_114228085 | 114199882 | C | CGTGACGG others(855): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 173 | 0.0058 | 862 | c.172 others(877): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(855): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0004 | a0002c0004t0066 | a0002c0004t0066g0192 | 1 | 2 | 0.5000 | 862 | c.162 others(883): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(855): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0117 | 1 | 196 | 0.0051 | 862 | c.181 others(881): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255704 | G | GGGCAGGC others(855): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0036 | a0001c0036t0003 | a0001c0036t0003g0133 | 1 | 260 | 0.0038 | 862 | c.85- others(879): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(855): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01255.hp1 others(5): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0010a0001c0002t0001a0001c0003t0004others(5): Show | a0001c0001t0010g0098 a0001c0002t0001g0236 a0001c0003t0004g0262 others(5): Show |
8 | 10 | 0.8000 | 862 | c.110 others(879): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(855): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02976.hp2 HG03225.hp1 |
a0001 | a0001c0006a0001c0031a0001c0039 | a0001c0006t0048a0001c0031t0006a0001c0039t0004 | a0001c0006t0048g0047 a0001c0031t0006g0048 a0001c0039t0004g0197 |
3 | 5 | 0.6000 | 862 | c.110 others(879): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 478383 | G | GGAGGGGA others(855): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0082 | 1 | 57 | 0.0175 | 862 | c.158 others(879): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32704292 | C | CTGAAAGT others(855): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0009 | a0002c0009t0007 | a0002c0009t0007g0018 | 1 | 113 | 0.0088 | 862 | c.650 others(879): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32704292 | C | CTGAAAGT others(855): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03195.hp1 HG03209.hp1 |
a0002a0025a0026 | a0002c0025a0025c0026a0026c0024 | a0002c0025t0008a0025c0026t0001a0026c0024t0008 | a0002c0025t0008g0108 a0025c0026t0001g0126 a0026c0024t0008g0105 |
3 | 115 | 0.0261 | 862 | c.650 others(879): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486895 | C | CCCTCCAC others(855): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 NA19240.hp2 |
a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0032 | 2 | 144 | 0.0139 | 862 | c.*14 others(873): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1118 | chr20 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(855): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 6 | 0.1667 | 862 | c.-17 others(881): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185119 | C | CCCCCTTC others(855): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0089 | a0002c0089t0002 | a0002c0089t0002g0090 | 1 | 146 | 0.0068 | 862 | c.193 others(881): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
JAK2_chr9_4980272_5134948 | 5074987 | T | TCTTATTG others(855): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0250 | 1 | 362 | 0.0028 | 862 | c.186 others(881): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATTTATA others(855): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0018 | 1 | 3 | 0.3333 | 862 | c.174 others(881): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(855): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0241 | 1 | 207 | 0.0048 | 862 | c.126 others(879): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATTTAT others(855): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 80 | 0.0125 | 862 | c.125 others(879): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 857744 | C | CGGGTGTG others(855): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0008 | a0008c0036 | a0008c0036t0003 | a0008c0036t0003g0275 | 1 | 284 | 0.0035 | 862 | c.153 others(881): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(855): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0028 | 1 | 6 | 0.1667 | 862 | c.368 others(879): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(855): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0136 | 1 | 8 | 0.1250 | 862 | c.641 others(877): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(855): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02976.hp1 |
a0001a0004 | a0001c0006a0004c0005 | a0001c0006t0004a0004c0005t0004 | a0001c0006t0004g0289 a0004c0005t0004g0288 |
2 | 211 | 0.0095 | 862 | c.-5+ others(877): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(855): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 210 | 0.0048 | 862 | c.-5+ others(877): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(855): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 210 | 0.0048 | 862 | c.-5+ others(877): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189596 | T | TATATATA others(855): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 327 | 0.0031 | 862 | c.-5+ others(877): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189697 | A | ATATATAT others(855): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0179 | 1 | 327 | 0.0031 | 862 | c.-5+ others(877): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195760478 | G | GCTAGGAT others(855): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0094 | a0094c0043 | a0094c0043t0001 | a0094c0043t0001g0033 | 1 | 130 | 0.0077 | 862 | c.148 others(881): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | |||||||
NCAN_chr19_19206958_19257233 | 19211000 | C | CGTGGTGG others(855): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0157 | 1 | 316 | 0.0032 | 862 | c.-10 others(873): Show |
NCAN | ENSG00000130287.14 | transcript | ENST00000252575.11 | protein_coding | 957 | chr19 | TogoVar |