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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NME8_chr7_37843597_37905397 | 37847185 | G | GGAAGAAG others(23): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG01358.hp1 HG02071.hp1 others(3): Show |
a0001a0002a0011 | a0001c0004a0002c0002a0002c0008others(1): Show | a0001c0004t0001a0002c0002t0001a0002c0008t0001others(1): Show | a0001c0004t0001g0226 a0002c0002t0001g0016 a0002c0002t0001g0019 others(3): Show |
6 | 388 | 0.0155 | 30 | c.-17 others(41): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 1411 | chr7 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37847185 | G | GGAGGAAG others(23): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 NA18940.hp1 |
a0003 | a0003c0003a0003c0010 | a0003c0003t0001a0003c0010t0001 | a0003c0003t0001g0123 a0003c0010t0001g0129 |
2 | 388 | 0.0052 | 30 | c.-17 others(41): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 1411 | chr7 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37847220 | A | AAGAAGAA others(23): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG02895.hp1 |
a0001a0013 | a0001c0001a0013c0027 | a0001c0001t0004a0013c0027t0005 | a0001c0001t0004g0254 a0013c0027t0005g0271 |
2 | 388 | 0.0052 | 30 | c.-17 others(41): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 1376 | chr7 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37847220 | A | AAGAAGAA others(23): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0124 | 1 | 388 | 0.0026 | 30 | c.-17 others(41): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 1376 | chr7 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37848327 | G | GAACAAGA others(23): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0186 | 1 | 388 | 0.0026 | 30 | c.-64 others(39): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 269 | chr7 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37848345 | G | GAAGAACA others(23): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0199 | 1 | 388 | 0.0026 | 30 | c.-62 others(39): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 251 | chr7 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37848345 | G | GAAGAAGA others(23): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG04199.hp1 |
a0001a0002 | a0001c0007a0002c0009 | a0001c0007t0001a0002c0009t0001 | a0001c0007t0001g0191 a0002c0009t0001g0225 |
2 | 388 | 0.0052 | 30 | c.-62 others(39): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 251 | chr7 | TogoVar | |||||||
NMNAT2_chr1_183243237_183423380 | 183341725 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0169 | 1 | 258 | 0.0039 | 30 | c.86- others(47): Show |
NMNAT2 | ENSG00000157064.11 | transcript | ENST00000287713.7 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
NMUR2_chr5_152386546_152410279 | 152397012 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG02273.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0035 a0002c0003t0002g0065 |
3 | 446 | 0.0067 | 30 | c.811 others(47): Show |
NMUR2 | ENSG00000132911.5 | transcript | ENST00000255262.4 | protein_coding | 2/3 | chr5 | TogoVar | |||||||
NOCT_chr4_139010781_139050939 | 139043980 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 384 | 0.0026 | 30 | c.461 others(45): Show |
NOCT | ENSG00000151014.6 | transcript | ENST00000280614.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NOCT_chr4_139010781_139050939 | 139044003 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0256 | 1 | 384 | 0.0026 | 30 | c.461 others(45): Show |
NOCT | ENSG00000151014.6 | transcript | ENST00000280614.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NOL10_chr2_10565754_10694975 | 10595144 | C | CAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 372 | 0.0027 | 30 | c.142 others(49): Show |
NOL10 | ENSG00000115761.17 | transcript | ENST00000381685.10 | protein_coding | 17/20 | chr2 | TogoVar | |||||||
NOL10_chr2_10565754_10694975 | 10638325 | G | GACGTAAC others(23): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 372 | 0.0027 | 30 | c.102 others(49): Show |
NOL10 | ENSG00000115761.17 | transcript | ENST00000381685.10 | protein_coding | 13/20 | chr2 | TogoVar | |||||||
NOL4L_chr20_32438059_32590333 | 32488805 | T | TTCTTTCT others(23): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0063 | 1 | 196 | 0.0051 | 30 | c.700 others(49): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 4/10 | chr20 | TogoVar | |||||||
NOL4_chr18_33846100_34229913 | 34024194 | A | AAAATATA others(23): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 168 | 0.0060 | 30 | c.773 others(47): Show |
NOL4 | ENSG00000101746.16 | transcript | ENST00000261592.10 | protein_coding | 5/10 | chr18 | TogoVar | |||||||
NOL4_chr18_33846100_34229913 | 34024194 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 168 | 0.0060 | 30 | c.773 others(47): Show |
NOL4 | ENSG00000101746.16 | transcript | ENST00000261592.10 | protein_coding | 5/10 | chr18 | TogoVar | |||||||
NOMO1_chr16_14828721_14901157 | 14867176 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02071.hp2 NA18954.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0026 a0001c0008t0001g0108 |
2 | 337 | 0.0059 | 30 | c.180 others(47): Show |
NOMO1 | ENSG00000103512.16 | transcript | ENST00000287667.12 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NOMO1_chr16_14828721_14901157 | 14867176 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 337 | 0.0030 | 30 | c.180 others(47): Show |
NOMO1 | ENSG00000103512.16 | transcript | ENST00000287667.12 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NOS1AP_chr1_162064691_162375475 | 162081774 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0004 | a0001c0004t0034 | a0001c0004t0034g0002 | 1 | 182 | 0.0055 | 30 | c.105 others(49): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOS1AP_chr1_162064691_162375475 | 162081774 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 182 | 0.0055 | 30 | c.105 others(49): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOS1AP_chr1_162064691_162375475 | 162217267 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 182 | 0.0055 | 30 | c.177 others(49): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOS1AP_chr1_162064691_162375475 | 162264468 | C | CTCCTCTC others(23): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02965.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0005 | a0001c0001t0003g0099 a0001c0004t0005g0101 |
2 | 182 | 0.0110 | 30 | c.178 others(49): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
NOS1AP_chr1_162064691_162375475 | 162264468 | C | CTCCTCTC others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01257.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0003 | a0001c0001t0001g0151 a0001c0004t0003g0172 |
2 | 182 | 0.0110 | 30 | c.178 others(49): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
NOS1_chr12_117203142_117366626 | 117335729 | T | TGAGAGAG others(23): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02970.hp1 HG03492.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0011a0001c0001t0105a0001c0002t0053others(3): Show | a0001c0001t0011g0163 a0001c0001t0105g0138 a0001c0002t0053g0016 others(3): Show |
6 | 294 | 0.0204 | 30 | c.-42 others(49): Show |
NOS1 | ENSG00000089250.20 | transcript | ENST00000317775.11 | protein_coding | 1/28 | chr12 | TogoVar | |||||||
NOS2_chr17_27751766_27805529 | 27765533 | A | AGGGGGGG others(23): Show |
splice_donor_variant others(1): Show |
HIGH | NA18986.hp1 | a0012 | a0012c0015 | a0012c0015t0001 | a0012c0015t0001g0193 | 1 | 402 | 0.0025 | 30 | c.242 others(43): Show |
NOS2 | ENSG00000007171.19 | transcript | ENST00000313735.11 | protein_coding | 20/26 | chr17 | TogoVar | |||||||
NOS2_chr17_27751766_27805529 | 27803120 | G | GAGGAAAG others(23): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 NA18985.hp1 NA19066.hp1 others(1): Show |
a0001a0011 | a0001c0001a0011c0026 | a0001c0001t0001a0011c0026t0001 | a0001c0001t0001g0047 a0001c0001t0001g0144 a0001c0001t0001g0145 others(1): Show |
4 | 402 | 0.0100 | 30 | c.-28 others(41): Show |
NOS2 | ENSG00000007171.19 | transcript | ENST00000313735.11 | protein_coding | 2592 | chr17 | TogoVar | |||||||
NOTCH2NLC_chr1_149385621_149476833 | 149390802 | A | AGGCGGCG others(23): Show |
disruptive_inframe_insertion | MODERATE | HG00544.hp2 HG01952.hp2 HG01975.hp1 others(10): Show |
a0006 | a0006c0007a0006c0044 | a0006c0007t0001a0006c0007t0003a0006c0007t0005others(4): Show | a0006c0007t0001g0001 a0006c0007t0001g0136 a0006c0007t0001g0155 others(10): Show |
13 | 260 | 0.0500 | 30 | c.44_ others(35): Show |
p.Gly others(41): Show |
NOTCH2NLC | ENSG00000286219.2 | transcript | ENST00000650865.2 | protein_coding | 1/5 | 212/8729 | 45/882 | 15/293 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
NOTCH2NLR_chr1_120718945_120799851 | 120752554 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 164 | 0.0061 | 30 | c.74- others(47): Show |
NOTCH2NLR | ENSG00000286106.3 | transcript | ENST00000624419.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOTCH2NLR_chr1_120718945_120799851 | 120752554 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 164 | 0.0061 | 30 | c.74- others(47): Show |
NOTCH2NLR | ENSG00000286106.3 | transcript | ENST00000624419.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOTCH2_chr1_119906553_120074662 | 120041055 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0160 | 1 | 168 | 0.0060 | 30 | c.74- others(47): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | TogoVar | |||||||
NOTCH2_chr1_119906553_120074662 | 120041069 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0047 | 1 | 168 | 0.0060 | 30 | c.74- others(47): Show |
NOTCH2 | ENSG00000134250.21 | transcript | ENST00000256646.7 | protein_coding | 1/33 | chr1 | TogoVar | |||||||
NOTCH4_chr6_32189843_32229067 | 32214484 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 437 | 0.0023 | 30 | c.202 others(47): Show |
NOTCH4 | ENSG00000204301.6 | transcript | ENST00000375023.3 | protein_coding | 12/29 | chr6 | TogoVar | |||||||
NOTCH4_chr6_32189843_32229067 | 32214484 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0132 | 1 | 437 | 0.0023 | 30 | c.202 others(47): Show |
NOTCH4 | ENSG00000204301.6 | transcript | ENST00000375023.3 | protein_coding | 12/29 | chr6 | TogoVar | |||||||
NOX1_chrX_100838324_100879359 | 100853332 | C | CTTTCTTT others(23): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 302 | 0.0033 | 30 | c.805 others(47): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 7/12 | chrX | TogoVar | |||||||
NOX3_chr6_155390368_155460839 | 155445981 | C | CTATATAT others(23): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02451.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0002 | a0001c0001t0001g0080 a0001c0001t0001g0165 a0001c0001t0001g0166 others(2): Show |
5 | 362 | 0.0138 | 30 | c.341 others(47): Show |
NOX3 | ENSG00000074771.4 | transcript | ENST00000159060.3 | protein_coding | 4/13 | chr6 | TogoVar | |||||||
NOX4_chr11_89319353_89496375 | 89438846 | T | TTATATAA others(23): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01255.hp2 HG01256.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0129 others(4): Show |
8 | 288 | 0.0278 | 30 | c.475 others(47): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 6/17 | chr11 | TogoVar | |||||||
NOX4_chr11_89319353_89496375 | 89455744 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 288 | 0.0035 | 30 | c.154 others(47): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 2/17 | chr11 | TogoVar | |||||||
NOX4_chr11_89319353_89496375 | 89486520 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01952.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0058 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0058g0005 |
3 | 288 | 0.0104 | 30 | c.153 others(47): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 2/17 | chr11 | TogoVar | |||||||
NOX5_chr15_69009695_69067762 | 69045536 | T | TTCTTTCT others(23): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 396 | 0.0025 | 30 | c.164 others(49): Show |
NOX5 | ENSG00000255346.11 | transcript | ENST00000388866.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NOX5_chr15_69009695_69067762 | 69045560 | C | CTTTCTTT others(23): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0302 | 1 | 396 | 0.0025 | 30 | c.164 others(49): Show |
NOX5 | ENSG00000255346.11 | transcript | ENST00000388866.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NOX5_chr15_69009695_69067762 | 69045569 | T | TTTCTTCT others(23): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0017 | a0017c0018 | a0017c0018t0011 | a0017c0018t0011g0275 | 1 | 396 | 0.0025 | 30 | c.164 others(49): Show |
NOX5 | ENSG00000255346.11 | transcript | ENST00000388866.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NOXRED1_chr14_77389021_77428523 | 77408892 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0164 | 1 | 298 | 0.0034 | 30 | c.350 others(47): Show |
NOXRED1 | ENSG00000165555.10 | transcript | ENST00000380835.7 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
NPAS2_chr2_100815139_101001829 | 100842081 | G | GCGCGCGC others(23): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0238 a0001c0001t0003g0269 |
2 | 288 | 0.0069 | 30 | c.-23 others(49): Show |
NPAS2 | ENSG00000170485.17 | transcript | ENST00000335681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 32938486 | T | TGAGAGAG others(23): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0057 | 1 | 92 | 0.0109 | 30 | c.-83 others(39): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 392 | chr14 | TogoVar | |||||||
NPAS3_chr14_32933879_33809173 | 33087109 | T | TATAATAT others(23): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0033 a0001c0001t0006g0020 |
2 | 92 | 0.0217 | 30 | c.140 others(49): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33087235 | A | ATACAATA others(23): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02622.hp2 HG02976.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0002a0001c0001t0006a0001c0001t0027others(4): Show | a0001c0001t0002g0011 a0001c0001t0002g0040 a0001c0001t0006g0021 others(5): Show |
8 | 92 | 0.0870 | 30 | c.140 others(49): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33301306 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0029 | 1 | 92 | 0.0109 | 30 | c.386 others(49): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33307593 | A | ATGTGTGT others(23): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0036 | 1 | 92 | 0.0109 | 30 | c.386 others(49): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33526310 | C | CTGGGAAA others(23): Show |
intron_variant | MODIFIER | HG03579.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0050 | a0001c0001t0010g0055 a0001c0001t0050g0089 |
2 | 92 | 0.0217 | 30 | c.469 others(49): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33563537 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG00738.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0062 others(10): Show |
13 | 92 | 0.1413 | 30 | c.558 others(47): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |