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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NAP1L1_chr12_76031585_76089685 | 76058194 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0309 | 1 | 356 | 0.0028 | 18 | c.429 others(35): Show |
NAP1L1 | ENSG00000187109.15 | transcript | ENST00000618691.5 | protein_coding | 6/14 | chr12 | TogoVar | ||||||
NAP1L1_chr12_76031585_76089685 | 76068735 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0039 | a0001c0002t0039g0152 | 1 | 356 | 0.0028 | 18 | c.103 others(33): Show |
NAP1L1 | ENSG00000187109.15 | transcript | ENST00000618691.5 | protein_coding | 3/14 | chr12 | TogoVar | ||||||
NAP1L1_chr12_76031585_76089685 | 76076549 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01884.hp1 HG03704.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0002t0021a0001c0002t0054others(1): Show | a0001c0002t0004g0292a0001c0002t0004g0314a0001c0002t0004g0322others(3): Show | 6 | 356 | 0.0169 | 18 | c.-20 others(35): Show |
NAP1L1 | ENSG00000187109.15 | transcript | ENST00000618691.5 | protein_coding | 1/14 | chr12 | TogoVar | ||||||
NAPEPLD_chr7_103094776_103154099 | 103099575 | C | CGTGTGTG others(11): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 HG03688.hp2 |
a0001a0002 | a0001c0008a0002c0002 | a0001c0008t0001a0002c0002t0001 | a0001c0008t0001g0196a0002c0002t0001g0252 | 2 | 381 | 0.0053 | 18 | c.*38 others(29): Show |
NAPEPLD | ENSG00000161048.12 | transcript | ENST00000465647.6 | protein_coding | 200 | chr7 | TogoVar | ||||||
NAPEPLD_chr7_103094776_103154099 | 103125890 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01167.hp2 HG01169.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0012a0003c0003t0015a0003c0003t0030 | a0003c0003t0012g0265a0003c0003t0012g0266a0003c0003t0012g0267others(2): Show | 5 | 381 | 0.0131 | 18 | c.294 others(35): Show |
NAPEPLD | ENSG00000161048.12 | transcript | ENST00000465647.6 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
NAPSA_chr19_50353477_50370639 | 50369558 | G | GTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02083.hp2 others(8): Show |
a0001a0010 | a0001c0001a0010c0018 | a0001c0001t0001a0010c0018t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0028others(2): Show | 11 | 350 | 0.0314 | 18 | c.-39 others(29): Show |
NAPSA | ENSG00000131400.9 | transcript | ENST00000253719.7 | protein_coding | 3920 | chr19 | TogoVar | ||||||
NARF_chr17_82453741_82495537 | 82494058 | T | TAGAGAGA others(11): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG01071.hp1 HG01433.hp1 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0001t0007a0001c0002t0013others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0010others(15): Show | 22 | 356 | 0.0618 | 18 | c.*59 others(29): Show |
NARF | ENSG00000141562.19 | transcript | ENST00000309794.16 | protein_coding | 3522 | chr17 | TogoVar | ||||||
NARS2_chr11_78430968_78579864 | 78468310 | G | GAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0281 | 1 | 294 | 0.0034 | 18 | c.102 others(35): Show |
NARS2 | ENSG00000137513.11 | transcript | ENST00000281038.10 | protein_coding | 10/13 | chr11 | TogoVar | ||||||
NARS2_chr11_78430968_78579864 | 78554500 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03041.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0280a0001c0004t0004g0281a0001c0004t0004g0282others(1): Show | 4 | 294 | 0.0136 | 18 | c.594 others(35): Show |
NARS2 | ENSG00000137513.11 | transcript | ENST00000281038.10 | protein_coding | 5/13 | chr11 | TogoVar | ||||||
NARS2_chr11_78430968_78579864 | 78554508 | C | CGTGCGTG others(11): Show |
intron_variant | MODIFIER | HG01516.hp2 HG03710.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084a0001c0001t0001g0106a0001c0001t0001g0107 | 3 | 294 | 0.0102 | 18 | c.594 others(35): Show |
NARS2 | ENSG00000137513.11 | transcript | ENST00000281038.10 | protein_coding | 5/13 | chr11 | TogoVar | ||||||
NARS2_chr11_78430968_78579864 | 78554508 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG01175.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0015others(14): Show | 17 | 294 | 0.0578 | 18 | c.594 others(35): Show |
NARS2 | ENSG00000137513.11 | transcript | ENST00000281038.10 | protein_coding | 5/13 | chr11 | TogoVar | ||||||
NARS2_chr11_78430968_78579864 | 78563885 | G | GTATTATT others(11): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0275 | 1 | 294 | 0.0034 | 18 | c.513 others(35): Show |
NARS2 | ENSG00000137513.11 | transcript | ENST00000281038.10 | protein_coding | 4/13 | chr11 | TogoVar | ||||||
NASP_chr1_45579041_45623893 | 45587661 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 300 | 0.0033 | 18 | c.59+ others(33): Show |
NASP | ENSG00000132780.17 | transcript | ENST00000350030.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NASP_chr1_45579041_45623893 | 45587687 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG01123.hp1 others(27): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0045others(27): Show | 30 | 300 | 0.1000 | 18 | c.59+ others(33): Show |
NASP | ENSG00000132780.17 | transcript | ENST00000350030.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NAT10_chr11_34100629_34151908 | 34141408 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0027 | 1 | 262 | 0.0038 | 18 | c.271 others(35): Show |
NAT10 | ENSG00000135372.10 | transcript | ENST00000257829.8 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAT8L_chr4_2054327_2074089 | 2059379 | C | CGCCGCCG others(11): Show |
5_prime_UTR_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0001 | 1 | 378 | 0.0027 | 18 | c.-11 others(26): Show |
NAT8L | ENSG00000185818.8 | transcript | ENST00000423729.3 | protein_coding | 1/3 | 97 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
NAT8_chr2_73635723_73647422 | 73643833 | T | TGCGCACG others(11): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01074.hp2 others(73): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0024a0001c0001t0002g0002others(4): Show | 76 | 396 | 0.1919 | 18 | c.-15 others(29): Show |
NAT8 | ENSG00000144035.4 | transcript | ENST00000272425.4 | protein_coding | 1412 | chr2 | TogoVar | ||||||
NAT8_chr2_73635723_73647422 | 73643833 | T | TGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | 18 | c.-15 others(29): Show |
NAT8 | ENSG00000144035.4 | transcript | ENST00000272425.4 | protein_coding | 1412 | chr2 | TogoVar | ||||||
NAT8_chr2_73635723_73647422 | 73643833 | T | TGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG01981.hp2 HG02129.hp2 others(10): Show |
a0001a0007 | a0001c0001a0001c0008a0007c0009 | a0001c0001t0001a0001c0008t0001a0007c0009t0001 | a0001c0001t0001g0001a0001c0008t0001g0010a0007c0009t0001g0011 | 13 | 396 | 0.0328 | 18 | c.-15 others(29): Show |
NAT8 | ENSG00000144035.4 | transcript | ENST00000272425.4 | protein_coding | 1412 | chr2 | TogoVar | ||||||
NAV1_chr1_201534127_201831969 | 201642511 | C | CTCTTTCT others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03540.hp2 |
a0001a0018 | a0001c0010a0018c0019 | a0001c0010t0066a0018c0019t0042 | a0001c0010t0066g0085a0018c0019t0042g0141 | 2 | 210 | 0.0095 | 18 | c.827 others(35): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 4/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NAV1_chr1_201534127_201831969 | 201651122 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0049a0001c0001t0086 | a0001c0001t0015g0071a0001c0001t0049g0075a0001c0001t0086g0110 | 3 | 210 | 0.0143 | 18 | c.161 others(37): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NAV1_chr1_201534127_201831969 | 201665581 | G | GAGCCATA others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp2 others(76): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0006a0001c0010others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0019a0001c0001t0002g0049a0001c0001t0002g0064others(76): Show | 79 | 210 | 0.3762 | 18 | c.161 others(39): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NAV1_chr1_201534127_201831969 | 201734482 | G | GGAAGAAG others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02738.hp1 HG03225.hp2 others(1): Show |
a0001a0004a0015 | a0001c0001a0004c0003a0015c0034 | a0001c0001t0065a0001c0001t0100a0004c0003t0019others(1): Show | a0001c0001t0065g0111a0001c0001t0100g0063a0004c0003t0019g0166others(1): Show | 4 | 210 | 0.0191 | 18 | c.208 others(39): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 7/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NAV1_chr1_201534127_201831969 | 201734499 | G | GAGAAGAA others(11): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01123.hp1 HG02040.hp1 others(7): Show |
a0001a0009 | a0001c0001a0001c0015a0009c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0128a0001c0001t0002g0029a0001c0001t0005g0205others(7): Show | 10 | 210 | 0.0476 | 18 | c.208 others(39): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 7/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NAV1_chr1_201534127_201831969 | 201756809 | C | CTTCTTTC others(11): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18983.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0018a0002c0002t0095 | a0001c0001t0018g0023a0002c0002t0095g0152 | 2 | 210 | 0.0095 | 18 | c.208 others(39): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 7/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NAV1_chr1_201534127_201831969 | 201779598 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG02886.hp1 others(4): Show |
a0001a0003a0006others(2): Show | a0001c0006a0001c0036a0003c0030others(3): Show | a0001c0006t0021a0001c0036t0076a0003c0030t0006others(3): Show | a0001c0006t0021g0201a0001c0006t0021g0210a0001c0036t0076g0206others(4): Show | 7 | 210 | 0.0333 | 18 | c.208 others(35): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 7/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NAV1_chr1_201534127_201831969 | 201802136 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 210 | 0.0048 | 18 | c.437 others(37): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 19/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 19776577 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02818.hp1 HG02818.hp2 |
a0001a0003 | a0001c0007a0001c0073a0003c0067 | a0001c0007t0010a0001c0073t0044a0003c0067t0007 | a0001c0007t0010g0081a0001c0073t0044g0077a0003c0067t0007g0010 | 3 | 166 | 0.0181 | 18 | c.268 others(37): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 19776632 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0004 | a0004c0134 | a0004c0134t0001 | a0004c0134t0001g0050 | 1 | 166 | 0.0060 | 18 | c.268 others(37): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 19859137 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0015 | a0002c0015t0042 | a0002c0015t0042g0037 | 1 | 166 | 0.0060 | 18 | c.439 others(35): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 20074760 | C | CCTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02451.hp1 |
a0001a0002 | a0001c0076a0002c0021a0002c0120 | a0001c0076t0015a0002c0021t0015a0002c0120t0015 | a0001c0076t0015g0089a0002c0021t0015g0139a0002c0120t0015g0156 | 3 | 166 | 0.0181 | 18 | c.498 others(37): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 22/37 | chr11 | TogoVar | ||||||
NAV2_chr11_19707837_20126601 | 20106175 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0062 | 1 | 166 | 0.0060 | 18 | c.684 others(35): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 20106175 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02717.hp2 HG02976.hp1 others(1): Show |
a0001a0002a0022 | a0001c0059a0002c0002a0002c0091others(1): Show | a0001c0059t0001a0002c0002t0004a0002c0091t0004others(1): Show | a0001c0059t0001g0135a0002c0002t0004g0029a0002c0091t0004g0028others(1): Show | 4 | 166 | 0.0241 | 18 | c.684 others(35): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 20106175 | A | ATATATGT others(11): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0046 | a0001c0046t0014 | a0001c0046t0014g0101 | 1 | 166 | 0.0060 | 18 | c.684 others(35): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 20106183 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | NA18979.hp1 NA19088.hp1 NA20300.hp2 |
a0001a0002a0005 | a0001c0069a0002c0129a0005c0083 | a0001c0069t0004a0002c0129t0004a0005c0083t0002 | a0001c0069t0004g0019a0002c0129t0004g0030a0005c0083t0002g0057 | 3 | 166 | 0.0181 | 18 | c.684 others(35): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 20106626 | G | GTTGTTTT others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01952.hp1 HG02155.hp1 others(1): Show |
a0001a0004a0009 | a0001c0028a0004c0010a0004c0016others(1): Show | a0001c0028t0030a0004c0010t0037a0004c0016t0001others(1): Show | a0001c0028t0030g0073a0004c0010t0037g0116a0004c0016t0001g0021others(1): Show | 4 | 166 | 0.0241 | 18 | c.684 others(35): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NAV3_chr12_77825894_78218010 | 77873744 | G | GTGTGTAT others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01515.hp2 HG03540.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0005others(5): Show | a0001c0001t0002g0183a0001c0002t0001g0031a0001c0002t0001g0111others(6): Show | 9 | 186 | 0.0484 | 18 | c.243 others(37): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NAV3_chr12_77825894_78218010 | 77873744 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG03130.hp2 HG04184.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0064 | a0001c0002t0003g0130a0001c0002t0064g0100 | 2 | 186 | 0.0108 | 18 | c.243 others(37): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NAV3_chr12_77825894_78218010 | 77873744 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG02896.hp2 others(4): Show |
a0001a0002a0007 | a0001c0003a0001c0005a0001c0009others(4): Show | a0001c0003t0009a0001c0005t0053a0001c0009t0009others(4): Show | a0001c0003t0009g0143a0001c0005t0053g0184a0001c0009t0009g0116others(4): Show | 7 | 186 | 0.0376 | 18 | c.243 others(37): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NAV3_chr12_77825894_78218010 | 78095045 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0018 | a0001c0018t0025 | a0001c0018t0025g0034 | 1 | 186 | 0.0054 | 18 | c.263 others(39): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 12/39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NAV3_chr12_77825894_78218010 | 78160378 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0134 | 1 | 186 | 0.0054 | 18 | c.486 others(37): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 23/39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NAV3_chr12_77825894_78218010 | 78160406 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0109 | 1 | 186 | 0.0054 | 18 | c.486 others(37): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 23/39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NBAS_chr2_15161916_15566334 | 15528899 | G | GTGTGTAT others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01261.hp2 HG01884.hp1 others(12): Show |
a0001a0006a0007others(3): Show | a0001c0001a0006c0008a0007c0007others(3): Show | a0001c0001t0001a0006c0008t0001a0007c0007t0001others(3): Show | a0001c0001t0001g0018a0001c0001t0001g0035a0001c0001t0001g0036others(12): Show | 15 | 224 | 0.0670 | 18 | c.746 others(35): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 9/51 | chr2 | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56739236 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02717.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0060a0001c0001t0009g0043 | 2 | 160 | 0.0125 | 18 | c.*16 others(37): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
NBDY_chrX_56724243_56824179 | 56739238 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 | 1 | 160 | 0.0063 | 18 | c.*16 others(37): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
NBDY_chrX_56724243_56824179 | 56771049 | G | GATCAAAG others(11): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0083 | 1 | 160 | 0.0063 | 18 | c.*16 others(39): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
NBDY_chrX_56724243_56824179 | 56771380 | C | CTCCTTCT others(11): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 160 | 0.0063 | 18 | c.*16 others(39): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
NBEAL1_chr2_203009875_203230194 | 203119424 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03139.hp1 |
a0001 | a0001c0009 | a0001c0009t0007 | a0001c0009t0007g0055a0001c0009t0007g0056 | 2 | 292 | 0.0069 | 18 | c.259 others(37): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 18/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NBEAL1_chr2_203009875_203230194 | 203141360 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0031 | a0001c0031t0002 | a0001c0031t0002g0159 | 1 | 292 | 0.0034 | 18 | c.484 others(37): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NBEAL1_chr2_203009875_203230194 | 203141366 | A | ATTATTAT others(11): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0092 | 1 | 292 | 0.0034 | 18 | c.484 others(37): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 31/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |