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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GADD45B_chr19_2471127_2483257 | 2480930 | A | ACCTGTAG others(457): Show |
downstream_gene_variant | MODIFIER | NA18942.hp1 NA18953.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0002 a0001c0001t0004g0011 |
3 | 460 | 0.0065 | 464 | c.*33 others(475): Show |
GADD45B | ENSG00000099860.9 | transcript | ENST00000215631.9 | protein_coding | 2674 | chr19 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807934 | C | CTCCCCCC others(457): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 314 | 0.0032 | 464 | c.*37 others(475): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3648 | chr2 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77452609 | A | ATGGAAGT others(457): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02257.hp1 HG02559.hp1 others(6): Show |
a0001 | a0001c0001a0001c0006a0001c0012 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(3): Show | a0001c0001t0001g0010 a0001c0001t0008g0176 a0001c0001t0008g0190 others(6): Show |
9 | 240 | 0.0375 | 464 | c.310 others(483): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77452609 | A | ATGGAAGT others(457): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 240 | 0.0042 | 464 | c.310 others(483): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77452609 | A | ATGGAAGT others(457): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02723.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0006a0001c0001t0014others(1): Show | a0001c0001t0002g0220 a0001c0001t0006g0024 a0001c0001t0006g0129 others(3): Show |
6 | 240 | 0.0250 | 464 | c.310 others(483): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GPBP1_chr5_57169059_57269673 | 57249833 | T | TCCCCTTC others(457): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0261 | 1 | 290 | 0.0035 | 464 | c.972 others(479): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53074425 | T | TATATATT others(457): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 208 | 0.0048 | 464 | c.-97 others(481): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(457): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0208 | 1 | 282 | 0.0036 | 464 | c.684 others(477): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GREB1_chr2_11529045_11647788 | 11618136 | C | CACTCCTG others(457): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0022 | a0022c0086 | a0022c0086t0008 | a0022c0086t0008g0256 | 1 | 308 | 0.0033 | 464 | c.341 others(479): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 21/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GRIN3A_chr9_101564352_101743647 | 101659358 | T | TGTATCTA others(457): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02886.hp2 |
a0001a0002 | a0001c0024a0002c0005 | a0001c0024t0017a0002c0005t0044 | a0001c0024t0017g0047 a0001c0024t0017g0048 a0002c0005t0044g0276 |
3 | 324 | 0.0093 | 464 | c.235 others(485): Show |
GRIN3A | ENSG00000198785.7 | transcript | ENST00000361820.6 | protein_coding | 3/8 | chr9 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106709971 | A | ACATGTAT others(457): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0168 | 1 | 256 | 0.0039 | 464 | c.183 others(483): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132622284 | A | ACTGACGT others(457): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0044 |
2 | 204 | 0.0098 | 464 | c.117 others(483): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132622290 | A | ATGTTAGA others(457): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01109.hp2 HG03579.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0010a0001c0005t0002a0002c0002t0001 | a0001c0001t0010g0047 a0001c0001t0010g0048 a0001c0005t0002g0040 others(1): Show |
4 | 204 | 0.0196 | 464 | c.117 others(483): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132622895 | C | CGTTCGTG others(457): Show |
intron_variant | MODIFIER | HG03490.hp1 HG04204.hp2 NA19000.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0014a0002c0002t0001 | a0001c0001t0001g0099 a0001c0001t0014g0078 a0002c0002t0001g0057 others(1): Show |
4 | 204 | 0.0196 | 464 | c.117 others(483): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 514235 | C | CCTCCCTC others(457): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 254 | 0.0039 | 464 | c.-84 others(481): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(457): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0154 | 1 | 312 | 0.0032 | 464 | c.-41 others(479): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209590 | T | TATATAAA others(457): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 260 | 0.0039 | 464 | c.963 others(483): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758039 | T | TACACAAG others(457): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0169 | 1 | 232 | 0.0043 | 464 | c.-67 others(483): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KIAA0930_chr22_45187244_45245894 | 45228892 | T | TCCCCCCC others(457): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0359 | 1 | 398 | 0.0025 | 464 | c.64+ others(481): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KRT75_chr12_52419070_52439371 | 52438187 | G | GAGTGTGG others(457): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01123.hp2 HG01168.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0003 a0003c0003t0003g0005 a0003c0003t0003g0034 |
5 | 416 | 0.0120 | 464 | c.-38 others(475): Show |
KRT75 | ENSG00000170454.6 | transcript | ENST00000252245.6 | protein_coding | 3817 | chr12 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62360489 | T | TGGGTGGA others(457): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01257.hp2 |
a0042a0047 | a0042c0134a0047c0129 | a0042c0134t0001a0047c0129t0001 | a0042c0134t0001g0081 a0047c0129t0001g0071 |
2 | 186 | 0.0108 | 464 | c.450 others(481): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507525 | G | GTGGAGGG others(457): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 260 | 0.0039 | 464 | c.624 others(481): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507824 | G | GGGGTAGG others(457): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 260 | 0.0039 | 464 | c.625 others(481): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364456 | C | CACACCCA others(457): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 290 | 0.0035 | 464 | c.129 others(481): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19315431 | A | ATATAATT others(457): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0098 | a0098c0023 | a0098c0023t0001 | a0098c0023t0001g0045 | 1 | 152 | 0.0066 | 464 | c.342 others(483): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 21/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19315431 | A | ATATAATT others(457): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0020 | a0003c0020t0002 | a0003c0020t0002g0086 | 1 | 152 | 0.0066 | 464 | c.342 others(483): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 21/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19315431 | A | ATATAATT others(457): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG03491.hp1 others(1): Show |
a0001a0020a0037others(1): Show | a0001c0001a0020c0072a0037c0106others(1): Show | a0001c0001t0001a0020c0072t0002a0037c0106t0001others(1): Show | a0001c0001t0001g0054 a0020c0072t0002g0082 a0037c0106t0001g0047 others(1): Show |
4 | 152 | 0.0263 | 464 | c.342 others(483): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 21/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MBD3L3_chr19_7051207_7063676 | 7061838 | T | TATAATAT others(457): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 288 | 0.0035 | 464 | c.-32 others(475): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3163 | chr19 | TogoVar | |||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(457): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0167 | 1 | 280 | 0.0036 | 464 | c.641 others(479): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MINK1_chr17_4828340_4903061 | 4852769 | T | TGGGGGAG others(457): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0118 | 1 | 360 | 0.0028 | 464 | c.57+ others(481): Show |
MINK1 | ENSG00000141503.17 | transcript | ENST00000355280.11 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189584 | A | ATATACAT others(457): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0006 | a0006c0008 | a0006c0008t0001a0006c0008t0002 | a0006c0008t0001g0013 a0006c0008t0002g0014 |
2 | 330 | 0.0061 | 464 | c.-5+ others(479): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189584 | A | ATATATAT others(457): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02155.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0041 a0001c0001t0002g0011 |
2 | 330 | 0.0061 | 464 | c.-5+ others(479): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MTTP_chr4_99569824_99628997 | 99588981 | A | ACATATAT others(457): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0046 | 1 | 364 | 0.0028 | 464 | c.394 others(479): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(457): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0186 | 1 | 384 | 0.0026 | 464 | c.160 others(481): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56725501 | G | GTAACAAT others(457): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 160 | 0.0063 | 464 | c.-38 others(475): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 3741 | chrX | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124438780 | G | GAGAGAGA others(457): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0102 | a0001c0102t0002 | a0001c0102t0002g0102 | 1 | 234 | 0.0043 | 464 | c.816 others(479): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807934 | C | CTCCCCCC others(457): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0108 | 1 | 319 | 0.0031 | 464 | c.-13 others(475): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1258 | chr2 | TogoVar | |||||||
NFILZ_chr19_8625633_8686151 | 8663415 | G | GTGGGGAA others(457): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0120 | 1 | 366 | 0.0027 | 464 | c.-16 others(485): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8663434 | A | AGCTGGTG others(457): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02015.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0072 | a0001c0001t0001g0192 a0003c0003t0072g0131 |
2 | 366 | 0.0055 | 464 | c.-16 others(485): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NHLRC4_chr16_562005_574495 | 571108 | T | TAGCCTGT others(457): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 464 | c.*26 others(475): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571108 | T | TGTGTCTG others(457): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG03471.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 2 | 424 | 0.0047 | 464 | c.*26 others(475): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | |||||||
NLRP8_chr19_55942832_55993629 | 55993508 | C | CCCCCTCC others(457): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0012 | a0012c0062 | a0012c0062t0029 | a0012c0062t0029g0312 | 1 | 350 | 0.0029 | 464 | c.*55 others(475): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4880 | chr19 | TogoVar | |||||||
NOS3_chr7_150986017_151019588 | 150995593 | C | CCCCCATC others(457): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0024 | a0024c0042 | a0024c0042t0001 | a0024c0042t0001g0073 | 1 | 382 | 0.0026 | 464 | c.270 others(479): Show |
NOS3 | ENSG00000164867.11 | transcript | ENST00000297494.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NXN_chr17_794310_984776 | 809871 | G | GTGTGAGC others(457): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 242 | 0.0041 | 464 | c.821 others(481): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 809871 | G | GTGTGAGC others(457): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0222 |
2 | 242 | 0.0083 | 464 | c.821 others(481): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 809871 | G | GTGTGAGC others(457): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00597.hp2 others(51): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0029 others(51): Show |
54 | 242 | 0.2231 | 464 | c.821 others(481): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 809871 | G | GTGTGAGC others(457): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 242 | 0.0041 | 464 | c.821 others(481): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841443 | T | TCCTCCCG others(457): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0132 | 1 | 242 | 0.0041 | 464 | c.361 others(483): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841591 | A | AGCAGGTC others(457): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 a0001c0001t0001g0146 |
2 | 242 | 0.0083 | 464 | c.361 others(483): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OCA2_chr15_27749875_28104315 | 28003551 | A | AAAGCCTT others(457): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02257.hp1 others(3): Show |
a0004a0011a0012 | a0004c0017a0004c0039a0004c0040others(2): Show | a0004c0017t0001a0004c0039t0001a0004c0040t0001others(2): Show | a0004c0017t0001g0104 a0004c0017t0001g0109 a0004c0039t0001g0095 others(3): Show |
6 | 110 | 0.0546 | 464 | c.104 others(485): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 9/23 | chr15 | TogoVar |