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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENTREP2_chr15_29115252_29575979 | 29561003 | C | CACAGAAG others(6953): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0012 | a0002c0012t0009 | a0002c0012t0009g0092 | 1 | 6 | 0.1667 | 6960 | c.219 others(6977): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29561003 | C | CACAGAAG others(6953): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 6 | 0.1667 | 6960 | c.219 others(6977): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29561003 | C | CACAGAAG others(6953): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0057 | 1 | 6 | 0.1667 | 6960 | c.219 others(6977): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29561003 | C | CACAGAAG others(6954): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0003 | a0003c0034 | a0003c0034t0002 | a0003c0034t0002g0046 | 1 | 6 | 0.1667 | 6961 | c.219 others(6978): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29561003 | C | CACAGAAG others(6954): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0003 | a0002c0003t0034 | a0002c0003t0034g0059 | 1 | 6 | 0.1667 | 6961 | c.219 others(6978): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29561003 | C | CACAGAAG others(6954): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0005 | a0005c0016 | a0005c0016t0006 | a0005c0016t0006g0079 | 1 | 6 | 0.1667 | 6961 | c.219 others(6978): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1068181 | C | CGGCCTCC others(6954): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0157 | 1 | 133 | 0.0075 | 6961 | c.670 others(6980): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29561003 | C | CACAGAAG others(6955): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03098.hp1 |
a0002a0005 | a0002c0012a0005c0018 | a0002c0012t0009a0005c0018t0006 | a0002c0012t0009g0091 a0005c0018t0006g0110 |
2 | 7 | 0.2857 | 6962 | c.219 others(6979): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29561003 | C | CACAGAAG others(6955): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0011 | a0001c0011t0031 | a0001c0011t0031g0035 | 1 | 6 | 0.1667 | 6962 | c.219 others(6979): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1068181 | C | CGGCCTCC others(6955): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01884.hp2 HG02451.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0020a0002c0002t0009a0002c0002t0013others(1): Show | a0001c0001t0020g0141 a0002c0002t0009g0149 a0002c0002t0009g0152 others(2): Show |
5 | 137 | 0.0365 | 6962 | c.670 others(6981): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1068181 | C | CGGCCTCC others(6956): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0150 | 1 | 133 | 0.0075 | 6963 | c.670 others(6982): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1068181 | C | CGGCCTCC others(6956): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0085 | 1 | 133 | 0.0075 | 6963 | c.670 others(6982): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1068181 | C | CGGCCTCC others(6956): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0112 | 1 | 133 | 0.0075 | 6963 | c.670 others(6982): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1068181 | C | CGGCCTCC others(6956): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0129 | 1 | 133 | 0.0075 | 6963 | c.670 others(6982): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432156 | C | CAGGGTGG others(6956): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0132 | 1 | 160 | 0.0063 | 6963 | c.101 others(6980): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29561003 | C | CACAGAAG others(6957): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0058 | 1 | 6 | 0.1667 | 6964 | c.219 others(6981): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1068181 | C | CGGCCTCC others(6957): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0083 | 1 | 133 | 0.0075 | 6964 | c.670 others(6983): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1068181 | C | CGGCCTCC others(6957): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0118 | 1 | 133 | 0.0075 | 6964 | c.670 others(6983): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1068181 | C | CGGCCTCC others(6957): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00741.hp1 HG01361.hp2 others(7): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0005g0111 a0001c0001t0005g0160 a0001c0001t0005g0162 others(7): Show |
10 | 142 | 0.0704 | 6964 | c.670 others(6983): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29561003 | C | CACAGAAG others(6958): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0014 | a0003c0014t0002 | a0003c0014t0002g0103 | 1 | 6 | 0.1667 | 6965 | c.219 others(6982): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1068181 | C | CGGCCTCC others(6958): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0161 | 1 | 133 | 0.0075 | 6965 | c.670 others(6984): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1068181 | C | CGGCCTCC others(6958): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG02155.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0030others(1): Show | a0001c0001t0005g0109 a0001c0001t0006g0113 a0001c0001t0006g0116 others(2): Show |
5 | 137 | 0.0365 | 6965 | c.670 others(6984): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137328268 | A | TACACCCA others(6958): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 21 | 0.0476 | 6965 | c.199 others(6984): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29561003 | C | CACAGAAG others(6959): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0008 | a0008c0025 | a0008c0025t0002 | a0008c0025t0002g0090 | 1 | 6 | 0.1667 | 6966 | c.219 others(6983): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586545 | A | AGGCAGTG others(6959): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0092 | 1 | 120 | 0.0083 | 6966 | c.157 others(6983): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29561003 | C | CACAGAAG others(6961): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 6 | 0.1667 | 6968 | c.219 others(6985): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29561003 | C | CACAGAAG others(6963): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0095 | 1 | 6 | 0.1667 | 6970 | c.219 others(6987): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111933 | G | GGGCACCT others(6965): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 303 | 0.0033 | 6972 | c.401 others(6989): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586548 | C | CCGGGGGG others(6966): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0251 | 1 | 261 | 0.0038 | 6973 | c.157 others(6990): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
SPATA31C2_chr9_88124305_88143475 | 88136124 | T | TGGGTTTC others(6971): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0001 | 1 | 366 | 0.0027 | 6978 | c.189 others(6995): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(6979): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 173 | 0.0058 | 6986 | c.127 others(7003): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(6979): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 173 | 0.0058 | 6986 | c.127 others(7003): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432164 | A | ACAGGGTG others(6986): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0199 | 1 | 325 | 0.0031 | 6993 | c.101 others(7010): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328303 | A | TCCCATAT others(6988): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0025 | 1 | 43 | 0.0233 | 6995 | c.199 others(7014): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126948320 | G | GTGGTGGT others(6993): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0073 | a0001c0073t0001 | a0001c0073t0001g0019 | 1 | 132 | 0.0076 | 7000 | c.47- others(7017): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377620 | G | GCACCGGC others(7008): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0120 | 1 | 161 | 0.0062 | 7015 | c.228 others(7036): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137328303 | A | TCCCATAT others(7019): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 43 | 0.0233 | 7026 | c.199 others(7045): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328303 | A | TCCCATAT others(7022): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 43 | 0.0233 | 7029 | c.199 others(7048): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328303 | A | TCCCATAT others(7022): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0068 | 1 | 43 | 0.0233 | 7029 | c.199 others(7048): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328303 | A | TCCCATAT others(7022): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 43 | 0.0233 | 7029 | c.199 others(7048): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
LAMC1_chr1_183018420_183150592 | 183150199 | T | TGTCCTCC others(7022): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG02965.hp1 HG03130.hp2 |
a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0231 a0002c0008t0001g0232 a0002c0008t0001g0233 |
3 | 265 | 0.0113 | 7029 | c.*74 others(7040): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 4608 | chr1 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328332 | T | TACACCCA others(7023): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0046 | 1 | 79 | 0.0127 | 7030 | c.199 others(7049): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
ARFRP1_chr20_63693647_63712976 | 63693666 | A | ACCACCAC others(7025): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0092 | 1 | 265 | 0.0038 | 7032 | c.*67 others(7043): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4980 | chr20 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414446 | G | GGGAGGGG others(7030): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 306 | 0.0033 | 7037 | c.115 others(7054): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACAGCCC others(7031): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 | 1 | 143 | 0.0070 | 7038 | c.294 others(7055): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237544787 | T | TGGGGACA others(7031): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0002 | a0002c0043 | a0002c0043t0001 | a0002c0043t0001g0064 | 1 | 172 | 0.0058 | 7038 | c.154 others(7057): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 965201 | T | TCCCAGAT others(7035): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0221 | 1 | 239 | 0.0042 | 7042 | c.137 others(7059): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HRNR_chr1_152207076_152229193 | 152215469 | C | CAGAAGAC others(7037): Show |
conservative_inframe_insertion | MODERATE | HG01361.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0005 | 1 | 371 | 0.0027 | 7044 | c.615 others(7053): Show |
p.Ser others(7059): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 6235/9629 | 6159/8553 | 2053/2850 | chr1 | TogoVar | |||
GALNT9_chr12_132191372_132334589 | 132242108 | C | CCACACAC others(7041): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 162 | 0.0062 | 7048 | c.107 others(7067): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
MED16_chr19_862963_898187 | 879404 | T | TCCCTGGT others(7041): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0006 | 1 | 9 | 0.1111 | 7048 | c.135 others(7065): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | TogoVar |